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Women/girls with Myotubular/Centronuclear Myopathy???

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  • pinksarah21
    The recent message posted by Kris has me wondering: How many members of this online group are a woman/girl with MTM/CNM??? (Meaning, female with a myopathy
    Message 1 of 7 , May 3 11:56 AM
      The recent message posted by Kris has me wondering: How many members
      of this online group are a woman/girl with MTM/CNM??? (Meaning,
      female with a myopathy subsequently confirmed by muscle biopsy to
      show the myotubular/centronuclear appearance.)

      Females with MTM/CNM are a VERY important sub-group among MTM/CNM
      patients. Specifically, for cases of MTM/CNM... until a few months
      ago there was never any genetic abnormality identified other than the
      MTM1 gene on the X-chromosome. However, since females have two pairs
      of X-chromosomes, it would be very unlikely for a female to have X-
      linked myotubular myopathy (the female would presumably need to have
      inherited a gene defect on the MTM1 gene from BOTH parents, but it
      would seem unlikely that the father would have had an MTM1 genetic
      abnormality on the ONLY X-chromosome that he possessed, without
      manifesting clinical symptoms of myopathy). Thus, while females can
      be "carriers" for an X-linked genetic abnormality, usually they will
      not be clinically affected themselves (although anything is
      possible).

      The importance of this female sub-group is that most likely they will
      play a VERY important part in helping researchers worldwide to find
      the forms of MTM/CNM that are NOT located on the X-chromosome.

      For boys with myotubular/centronuclear biopsy appearance, but a
      negative test for the MTM1 gene on the X-chromosome, we (and
      researchers) are still left guessing whether the boy has a genetic
      abnormality somewhere else on the X-chromosome (other than the MTM1
      gene) versus whether the genetic abnormality is on an autosomal
      chromosome (i.e., a chromosome other than the X-chromosome).

      It is very important for ALL of us to be in contact with top-notch
      caliber research centers that are working on understanding these
      myopathies (here in the USA, I am mainly aware of Dr. Alan Beggs at
      Harvard, Children's Hospital Boston). But being involved with the
      research is ESPECIALLY important for females with MTM/CNM, since
      those female cases seem especially likely to contribute to discovery
      of more autosomal forms (the forms that are NOT located on the X-
      chromosome).

      QUESTIONS FOR THE GROUP:
      1) How many woman/girls are in this group with MTM/CNM??
      2) If so, are you enrolled in research with a national or
      international center?
      3) How do most of us (members of this group) find out where such
      research is going on and how to participate?

      -Pat
    • angela huss
      Dear Pat, Hello, I am a 30 yr. old female with centronuclear myopathy and had a son w/ mtm pass away from it in 2/05 he lived til 5 yrs of age. I go to a MDA
      Message 2 of 7 , May 3 12:23 PM
        Dear Pat,
        Hello, I am a 30 yr. old female with centronuclear myopathy and had a son w/ mtm pass away from it in 2/05 he lived til 5 yrs of age. I go to a MDA doctor but, not involved with anyother research. Sincerely,
          Angie Biglerville, pa

        pinksarah21 <patsarah@...> wrote:
        The recent message posted by Kris has me wondering: How many members
        of this online group are a woman/girl with MTM/CNM??? (Meaning,
        female with a myopathy subsequently confirmed by muscle biopsy to
        show the myotubular/centronuclear appearance.)

        Females with MTM/CNM are a VERY important sub-group among MTM/CNM
        patients. Specifically, for cases of MTM/CNM... until a few months
        ago there was never any genetic abnormality identified other than the
        MTM1 gene on the X-chromosome. However, since females have two pairs
        of X-chromosomes, it would be very unlikely for a female to have X-
        linked myotubular myopathy (the female would presumably need to have
        inherited a gene defect on the MTM1 gene from BOTH parents, but it
        would seem unlikely that the father would have had an MTM1 genetic
        abnormality on the ONLY X-chromosome that he possessed, without
        manifesting clinical symptoms of myopathy). Thus, while females can
        be "carriers" for an X-linked genetic abnormality, usually they will
        not be clinically affected themselves (although anything is
        possible).

        The importance of this female sub-group is that most likely they will
        play a VERY important part in helping researchers worldwide to find
        the forms of MTM/CNM that are NOT located on the X-chromosome.

        For boys with myotubular/centronuclear biopsy appearance, but a
        negative test for the MTM1 gene on the X-chromosome, we (and
        researchers) are still left guessing whether the boy has a genetic
        abnormality somewhere else on the X-chromosome (other than the MTM1
        gene) versus whether the genetic abnormality is on an autosomal
        chromosome (i.e., a chromosome other than the X-chromosome).

        It is very important for ALL of us to be in contact with top-notch
        caliber research centers that are working on understanding these
        myopathies (here in the USA, I am mainly aware of Dr. Alan Beggs at
        Harvard, Children's Hospital Boston). But being involved with the
        research is ESPECIALLY important for females with MTM/CNM, since
        those female cases seem especially likely to contribute to discovery
        of more autosomal forms (the forms that are NOT located on the X-
        chromosome).

        QUESTIONS FOR THE GROUP:
        1) How many woman/girls are in this group with MTM/CNM??
        2) If so, are you enrolled in research with a national or
        international center?
        3) How do most of us (members of this group) find out where such
        research is going on and how to participate?

        -Pat





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      • Toni Abram
        Hello Just answering the questions posted earlier today as a woman with CNM. Dad and I have both taken part in the Beggs Laboratory Research project and our
        Message 3 of 7 , May 3 2:04 PM

          Hello

           

          Just answering the questions posted earlier today as a woman with CNM.

           

          Dad and I have both taken part in the Beggs Laboratory Research project and our whole family also had some test done by the University of Wales College of Medicine shortly after we were diagnosed. The last correspondence I have from them is dated September 2000, in which I was advised

           

          ‘I have had some preliminary results from the department in Amsterdam that were analysing the DNA to look for an alteration in a gene called XTML1 that is know to cause Myotubular Myoapthy (the same as centronuclear myoapthy) in boys.  To date they have not found an alteration in this gene in your DNA.  However they have not finished completing the analysis which may take some time yet.  As I explained I think it is unlikely that we will find an alteration in this gene but at present it is the only gene know to cause this muscle problem, there are likely to be other that have not been identified yet.  When these are found we will arrange for your sample to be analysed.’

           

          I always ask my specialist about these tests when I visit but the answer is always the same – it takes time.  Dad and I learnt about the discovery of the Autosomal Dominant gene from Beggs in November but our specialist has not been in touch.

           

          I learnt about the Beggs Laboratory research because of the Information Point and it seemed like a good idea to both dad and I to take part.  Beggs I know take a stance of not approaching people to take part in the study – believing that it must be a personal decision.  For dad and I it was a personal decision with which we individually felt comfortable.  However, we were approached by our specialist to take part on the University of Wales project. 

           

          I think the statement about women being unlikely to have XLMTM is largely correct however, there is such a thing as a manifesting carrier.  I can’t get too technical on this because I am not a medical professional but this article might explain things a bit (or make everyone even more confused).  It relates to Duchenne and Becker muscular dystrophy.

           

          http://www.muscular-dystrophy.org/about_your_condition/manifesting_carriers/index.html
           

           

           

           

          -----Original Message-----
          From: Myotubular_Myopathy@yahoogroups.com [mailto:Myotubular_Myopathy@yahoogroups.com] On Behalf Of pinksarah21
          Sent:
          03 May 2006 19:56
          To: Myotubular_Myopathy@yahoogroups.com
          Subject: [Myotubular_Myopathy] Women/girls with Myotubular/Centronuclear Myopathy???

           

          The recent message posted by Kris has me wondering: How many members
          of this online group are a woman/girl with MTM/CNM??? (Meaning,
          female with a myopathy subsequently confirmed by muscle biopsy to
          show the myotubular/centronuclear appearance.)

          Females with MTM/CNM are a VERY important sub-group among MTM/CNM
          patients. Specifically, for cases of MTM/CNM... until a few months
          ago there was never any genetic abnormality identified other than the
          MTM1 gene on the X-chromosome. However, since females have two pairs
          of X-chromosomes, it would be very unlikely for a female to have X-
          linked myotubular myopathy (the female would presumably need to have
          inherited a gene defect on the MTM1 gene from BOTH parents, but it
          would seem unlikely that the father would have had an MTM1 genetic
          abnormality on the ONLY X-chromosome that he possessed, without
          manifesting clinical symptoms of myopathy). Thus, while females can
          be "carriers" for an X-linked genetic abnormality, usually they will
          not be clinically affected themselves (although anything is
          possible).

          The importance of this female sub-group is that most likely they will
          play a VERY important part in helping researchers worldwide to find
          the forms of MTM/CNM that are NOT located on the X-chromosome.

          For boys with myotubular/centronuclear biopsy appearance, but a
          negative test for the MTM1 gene on the X-chromosome, we (and
          researchers) are still left guessing whether the boy has a genetic
          abnormality somewhere else on the X-chromosome (other than the MTM1
          gene) versus whether the genetic abnormality is on an autosomal
          chromosome (i.e., a chromosome other than the X-chromosome).

          It is very important for ALL of us to be in contact with top-notch
          caliber research centers that are working on understanding these
          myopathies (here in the
          USA , I am mainly aware of Dr. Alan Beggs at
          Harvard, Children's Hospital Boston). But being involved with the
          research is ESPECIALLY important for females with MTM/CNM, since
          those female cases seem especially likely to contribute to discovery
          of more autosomal forms (the forms that are NOT located on the X-
          chromosome).

          QUESTIONS FOR THE GROUP:
          1) How many woman/girls are in this group with MTM/CNM??
          2) If so, are you enrolled in research with a national or
          international center?
          3) How do most of us (members of this group) find out where such
          research is going on and how to participate?

          -Pat




        • angela huss
          Dear Kris, Good Morning! How are you? My son Patrick was a preemie born at 26 weeks. I was told that the prematurity did not help with his MTM. It made things
          Message 4 of 7 , May 4 5:57 AM
            Dear Kris,
             
            Good Morning! How are you? My son Patrick was a preemie born at 26 weeks. I was told that the prematurity did not help with his MTM. It made things worse they noticed something wwasnt right when he was in the NICU. A MDA doctor took a look and did a byopsy from him then, a week later they did 1 on me and found out that I have Centro and he had MTM. I took me to have him to even get dianosed. I am not big on being tested on so I have not been in researching. I went through that during  childhood. Since the birth of my daughters 3 and 2 yrs of age.I had strong back labor with both of them.  I am now in a powerchair no longer able to stand. Do you know or think of an agency that could help that could help me with house work? I have my kids and trying to keep up with them and the house to gets interesting at times. Well i have to go. Have a nice day! Sincerely, Angie

            Kris Paulsen <dpaulsen@...> wrote:
            Angie
             
            I’m very sorry about your son.  Did he show symptoms at birth?  Did he ever walk? 
             
            How have you been feeling since your diagnosis?  Do you have weakness, pain, or difficulty climbing stairs?  Do you need a cane or anything?  Where are you in PA?  I was born in Pittsburgh in 1973. 
             
            Kris
             
             

            From: Myotubular_Myopathy@yahoogroups.com [mailto: Myotubular_Myopathy@yahoogroups.com ] On Behalf Of angela huss
            Sent: Wednesday, May 03, 2006 12:24 PM
            To: Myotubular_Myopathy@yahoogroups.com
            Subject: Re: [Myotubular_Myopathy] Women/girls with Myotubular/Centronuclear Myopathy???
             
            Dear Pat,
            Hello, I am a 30 yr. old female with centronuclear myopathy and had a son w/ mtm pass away from it in 2/05 he lived til 5 yrs of age. I go to a MDA doctor but, not involved with anyother research. Sincerely,
              Angie Biglerville, pa

            pinksarah21 <patsarah@...> wrote:
            The recent message posted by Kris has me wondering: How many members
            of this online group are a woman/girl with MTM/CNM??? (Meaning,
            female with a myopathy subsequently confirmed by muscle biopsy to
            show the myotubular/centronuclear appearance.)

            Females with MTM/CNM are a VERY important sub-group among MTM/CNM
            patients. Specifically, for cases of MTM/CNM... until a few months
            ago there was never any genetic abnormality identified other than the
            MTM1 gene on the X-chromosome. However, since females have two pairs
            of X-chromosomes, it would be very unlikely for a female to have X-
            linked myotubular myopathy (the female would presumably need to have
            inherited a gene defect on the MTM1 gene from BOTH parents, but it
            would seem unlikely that the father would have had an MTM1 genetic
            abnormality on the ONLY X-chromosome that he possessed, without
            manifesting clinical symptoms of myopathy). Thus, while females can
            be "carriers" for an X-linked genetic abnormality, usually they will
            not be clinically affected themselves (although anything is
            possible).

            The importance of this female sub-group is that most likely they will
            play a VERY important part in helping researchers worldwide to find
            the forms of MTM/CNM that are NOT located on the X-chromosome.

            For boys with myotubular/centronuclear biopsy appearance, but a
            negative test for the MTM1 gene on the X-chromosome, we (and
            researchers) are still left guessing whether the boy has a genetic
            abnormality somewhere else on the X-chromosome (other than the MTM1
            gene) versus whether the genetic abnormality is on an autosomal
            chromosome (i.e., a chromosome other than the X-chromosome).

            It is very important for ALL of us to be in contact with top-notch
            caliber research centers that are working on understanding these
            myopathies (here in the USA , I am mainly aware of Dr. Alan Beggs at
            Harvard, Children's Hospital Boston). But being involved with the
            research is ESPECIALLY important for females with MTM/CNM, since
            those female cases seem especially likely to contribute to discovery
            of more autosomal forms (the forms that are NOT located on the X-
            chromosome).

            QUESTIONS FOR THE GROUP:
            1) How many woman/girls are in this group with MTM/CNM??
            2) If so, are you enrolled in research with a national or
            international center?
            3) How do most of us (members of this group) find out where such
            research is going on and how to participate?

            -Pat


             

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          • Abbie harrison
            My daughter Kaylee is confirmed MTM/CNM by two seperate muscle biopsies. SHe does not have the X-linked and is believed to have the autosomal recessive. We
            Message 5 of 7 , May 4 7:10 AM
              My daughter Kaylee is confirmed MTM/CNM by two seperate muscle biopsies.  SHe does not have the X-linked and is believed to have the autosomal recessive.  We have not been involved in any research, but I am interested.
              Abbie Howeth

              pinksarah21 <patsarah@...> wrote:
              The recent message posted by Kris has me wondering: How many members
              of this online group are a woman/girl with MTM/CNM??? (Meaning,
              female with a myopathy subsequently confirmed by muscle biopsy to
              show the myotubular/centronuclear appearance.)

              Females with MTM/CNM are a VERY important sub-group among MTM/CNM
              patients. Specifically, for cases of MTM/CNM... until a few months
              ago there was never any genetic abnormality identified other than the
              MTM1 gene on the X-chromosome. However, since females have two pairs
              of X-chromosomes, it would be very unlikely for a female to have X-
              linked myotubular myopathy (the female would presumably need to have
              inherited a gene defect on the MTM1 gene from BOTH parents, but it
              would seem unlikely that the father would have had an MTM1 genetic
              abnormality on the ONLY X-chromosome that he possessed, without
              manifesting clinical symptoms of myopathy). Thus, while females can
              be "carriers" for an X-linked genetic abnormality, usually they will
              not be clinically affected themselves (although anything is
              possible).

              The importance of this female sub-group is that most likely they will
              play a VERY important part in helping researchers worldwide to find
              the forms of MTM/CNM that are NOT located on the X-chromosome.

              For boys with myotubular/centronuclear biopsy appearance, but a
              negative test for the MTM1 gene on the X-chromosome, we (and
              researchers) are still left guessing whether the boy has a genetic
              abnormality somewhere else on the X-chromosome (other than the MTM1
              gene) versus whether the genetic abnormality is on an autosomal
              chromosome (i.e., a chromosome other than the X-chromosome).

              It is very important for ALL of us to be in contact with top-notch
              caliber research centers that are working on understanding these
              myopathies (here in the USA, I am mainly aware of Dr. Alan Beggs at
              Harvard, Children's Hospital Boston). But being involved with the
              research is ESPECIALLY important for females with MTM/CNM, since
              those female cases seem especially likely to contribute to discovery
              of more autosomal forms (the forms that are NOT located on the X-
              chromosome).

              QUESTIONS FOR THE GROUP:
              1) How many woman/girls are in this group with MTM/CNM??
              2) If so, are you enrolled in research with a national or
              international center?
              3) How do most of us (members of this group) find out where such
              research is going on and how to participate?

              -Pat




            • Kris Paulsen
              Angie I m very sorry about your son. Did he show symptoms at birth? Did he ever walk? How have you been feeling since your diagnosis? Do you have weakness,
              Message 6 of 7 , May 4 8:23 AM

                Angie

                 

                I’m very sorry about your son.  Did he show symptoms at birth?  Did he ever walk? 

                 

                How have you been feeling since your diagnosis?  Do you have weakness, pain, or difficulty climbing stairs?  Do you need a cane or anything?  Where are you in PA?  I was born in Pittsburgh in 1973. 

                 

                Kris

                 

                 


                From: Myotubular_Myopathy@yahoogroups.com [mailto: Myotubular_Myopathy@yahoogroups.com ] On Behalf Of angela huss
                Sent: Wednesday, May 03, 2006 12:24 PM
                To: Myotubular_Myopathy@yahoogroups.com
                Subject: Re: [Myotubular_Myopathy] Women/girls with Myotubular/Centronuclear Myopathy???

                 

                Dear Pat,

                Hello, I am a 30 yr. old female with centronuclear myopathy and had a son w/ mtm pass away from it in 2/05 he lived til 5 yrs of age. I go to a MDA doctor but, not involved with anyother research. Sincerely,

                  Angie Biglerville, pa

                pinksarah21 <patsarah@...> wrote:

                The recent message posted by Kris has me wondering: How many members
                of this online group are a woman/girl with MTM/CNM??? (Meaning,
                female with a myopathy subsequently confirmed by muscle biopsy to
                show the myotubular/centronuclear appearance.)

                Females with MTM/CNM are a VERY important sub-group among MTM/CNM
                patients. Specifically, for cases of MTM/CNM... until a few months
                ago there was never any genetic abnormality identified other than the
                MTM1 gene on the X-chromosome. However, since females have two pairs
                of X-chromosomes, it would be very unlikely for a female to have X-
                linked myotubular myopathy (the female would presumably need to have
                inherited a gene defect on the MTM1 gene from BOTH parents, but it
                would seem unlikely that the father would have had an MTM1 genetic
                abnormality on the ONLY X-chromosome that he possessed, without
                manifesting clinical symptoms of myopathy). Thus, while females can
                be "carriers" for an X-linked genetic abnormality, usually they will
                not be clinically affected themselves (although anything is
                possible).

                The importance of this female sub-group is that most likely they will
                play a VERY important part in helping researchers worldwide to find
                the forms of MTM/CNM that are NOT located on the X-chromosome.

                For boys with myotubular/centronuclear biopsy appearance, but a
                negative test for the MTM1 gene on the X-chromosome, we (and
                researchers) are still left guessing whether the boy has a genetic
                abnormality somewhere else on the X-chromosome (other than the MTM1
                gene) versus whether the genetic abnormality is on an autosomal
                chromosome (i.e., a chromosome other than the X-chromosome).

                It is very important for ALL of us to be in contact with top-notch
                caliber research centers that are working on understanding these
                myopathies (here in the USA , I am mainly aware of Dr. Alan Beggs at
                Harvard, Children's Hospital Boston). But being involved with the
                research is ESPECIALLY important for females with MTM/CNM, since
                those female cases seem especially likely to contribute to discovery
                of more autosomal forms (the forms that are NOT located on the X-
                chromosome).

                QUESTIONS FOR THE GROUP:
                1) How many woman/girls are in this group with MTM/CNM??
                2) If so, are you enrolled in research with a national or
                international center?
                3) How do most of us (members of this group) find out where such
                research is going on and how to participate?

                -Pat


                 


                New Yahoo! Messenger with Voice. Call regular phones from your PC and save big.

              • pinksarah21
                Hi, Abbie! Kids like Kaylee (presumed autosomal recessive CNM, for which there is currently no gene identified) are exactly the types of kids that researchers
                Message 7 of 7 , May 4 8:32 AM
                  Hi, Abbie! Kids like Kaylee (presumed autosomal recessive CNM, for
                  which there is currently no gene identified) are exactly the types of
                  kids that researchers need to study in order to find that gene. Only
                  from finding the gene can any gene-specific treatments ever be
                  possible. We are in the same situation with our son Adam (presumed
                  autosomal recessive CNM, for which there is currently no gene
                  identified). As I see it, pretty much anyone who does not have a
                  confirmed genetic diagnosis should be seeking one. It seems clear from
                  the medical literature that the muscle biopsy alone can NOT
                  distinguish between the various genetic abnormalities that can cause
                  the my tubular/centronuclear appearance on muscle biopsy. Usually, the
                  first step is getting tested for the X-linked MTM1 gene, which is a
                  study done at the University of Chicago.

                  It sounds like Kaylee has already undergone that MTM1 testing, but for
                  anyone else in the group whose child/family has not done so, here's
                  the link for the University of Chicago:
                  http://www.genes.uchicago.edu/clinic/MTMTest.html

                  Meanwhile, if the University of Chicago test is negative for the
                  X-linked MTM1 gene abnormality, then typically the next step would be
                  to have another blood sample sent to a top-notch research lab working
                  on finding the involved gene. In the United States, the only place I
                  know of that is working on this is Dr. Alan Beggs, at Harvard
                  (Children's Hospital Boston). My wife and I have been in contact with
                  them, and they are SOOOO nice! They are a really down-to-earth,
                  bright, dedicated bunch, and I wholeheartedly think that if anyone in
                  this country is going to find the involves gene, it will be them.
                  Thus, when I look at my son I actually feel proud to know that in
                  addition to taking care of his day-to-day needs, we are doing
                  everything we can to help the researchers to eventually find a cure,
                  hopefully in his lifetime. Not only that, I feel good about knowing
                  that our involvement may help not only Adam, but may also help Kaylee,
                  and generations of Kaylees and Adams for years to come.

                  Anyway, here's the link to the web site for Dr. Beggs' at Harvard:
                  http://www.chb-genomics.org/hndp/research/beggs/

                  From the website, the main contact person there is named Elizabeth
                  Taylor, Phone # 617-919-2169
                  Email: etaylor@...

                  My wife and I found her to be very kind, committed and patient with
                  our questions.

                  I would suggest that Abbie and others in a similar situation (those
                  without a specific genetic diagnosis) should contact the research lab
                  to see what the latest projects are and how to help. Even if you are
                  overseas, it is probably worth an email to see if there is something
                  different to contribute to a project at one site versus another. That
                  way we can all support each other and the researchers and our children
                  at the same time. We found them super easy to talk to.

                  -Pat


                  --- In Myotubular_Myopathy@yahoogroups.com, Abbie harrison
                  <abbiesharrison@...> wrote:
                  >
                  > My daughter Kaylee is confirmed MTM/CNM by two seperate muscle
                  biopsies. SHe does not have the X-linked and is believed to have the
                  autosomal recessive. We have not been involved in any research, but I
                  am interested.
                  > Abbie Howeth
                  >
                  > pinksarah21 <patsarah@...> wrote:
                  > The recent message posted by Kris has me wondering: How many members
                  > of this online group are a woman/girl with MTM/CNM??? (Meaning,
                  > female with a myopathy subsequently confirmed by muscle biopsy to
                  > show the myotubular/centronuclear appearance.)
                  >
                  > Females with MTM/CNM are a VERY important sub-group among MTM/CNM
                  > patients. Specifically, for cases of MTM/CNM... until a few months
                  > ago there was never any genetic abnormality identified other than the
                  > MTM1 gene on the X-chromosome. However, since females have two pairs
                  > of X-chromosomes, it would be very unlikely for a female to have X-
                  > linked myotubular myopathy (the female would presumably need to have
                  > inherited a gene defect on the MTM1 gene from BOTH parents, but it
                  > would seem unlikely that the father would have had an MTM1 genetic
                  > abnormality on the ONLY X-chromosome that he possessed, without
                  > manifesting clinical symptoms of myopathy). Thus, while females can
                  > be "carriers" for an X-linked genetic abnormality, usually they will
                  > not be clinically affected themselves (although anything is
                  > possible).
                  >
                  > The importance of this female sub-group is that most likely they will
                  > play a VERY important part in helping researchers worldwide to find
                  > the forms of MTM/CNM that are NOT located on the X-chromosome.
                  >
                  > For boys with myotubular/centronuclear biopsy appearance, but a
                  > negative test for the MTM1 gene on the X-chromosome, we (and
                  > researchers) are still left guessing whether the boy has a genetic
                  > abnormality somewhere else on the X-chromosome (other than the MTM1
                  > gene) versus whether the genetic abnormality is on an autosomal
                  > chromosome (i.e., a chromosome other than the X-chromosome).
                  >
                  > It is very important for ALL of us to be in contact with top-notch
                  > caliber research centers that are working on understanding these
                  > myopathies (here in the USA, I am mainly aware of Dr. Alan Beggs at
                  > Harvard, Children's Hospital Boston). But being involved with the
                  > research is ESPECIALLY important for females with MTM/CNM, since
                  > those female cases seem especially likely to contribute to discovery
                  > of more autosomal forms (the forms that are NOT located on the X-
                  > chromosome).
                  >
                  > QUESTIONS FOR THE GROUP:
                  > 1) How many woman/girls are in this group with MTM/CNM??
                  > 2) If so, are you enrolled in research with a national or
                  > international center?
                  > 3) How do most of us (members of this group) find out where such
                  > research is going on and how to participate?
                  >
                  > -Pat
                  >
                  >
                  >
                  >
                  >
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