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Re: New member: MTM but negative DNA-genetic test. Anyone???

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  • Maurizio
    Hi Pat & Sarah Welcome to the group, this is a topic we have raised recently, we have 2 boys with suspected X-MTM but DNA testing has proved inconclusive, we
    Message 1 of 3 , Apr 20, 2006
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      Hi Pat & Sarah

      Welcome to the group, this is a topic we have raised recently, we
      have 2 boys with suspected X-MTM but DNA testing has proved
      inconclusive, we were also told that the test was only able to
      detect between 80-85% of mutations, however it is my belief that the
      test is even less accurate then that (judging from the amount of
      other people on this site who are in the same position), we will
      soon be having a biopsy performed on Regan (who is 3-½ years old)
      and if the test proves positive for X-MTM (which it should) then it
      will open other options to us, because we have 2 effected boys in
      our family we can try and identify the mutation through a process
      called linkage analysis where they take DNA from both boys and
      compare them, this way they can find a mutation even if they do not
      yet know about it, I don't know if you have anyone else in your
      family with this myopathy but if you have a brother, cousin or
      nephew with the condition then it may be possible to identify the
      mutation this way, getting a genetic diagnosis will be useful not
      only because you will be able to be tested in future pregnancies but
      also other family members will be able to be tested to determine
      there carrier status.

      We would love to hear more about your son and if you want you can
      even post some photos on the site, this site a great place to chat
      to other people in the same position as yourself, so whatever you
      need be it advice or just talking to somebody who understands what
      your feeling this is a group of friends from all over the world and
      we are all here for each other.

      Take care Moz, Rachel & boys



      --- In Myotubular_Myopathy@yahoogroups.com, "pinksarah21"
      <patsarah@...> wrote:
      >
      > Hi, gang. We are new to this group.
      > Our 5-year-old son has myopathy, and the biopsy when he was 1-year-
      old
      > confirmed the myotubular/centronuclear appearance of his muscle
      cells.
      > But his DNA tested negative for the gene defect (XL-MTM tested
      > negative at the University of Chicago lab). We were told that the
      DNA
      > test is negative 15-20% of the time, presumably because the
      myopathy
      > in such a case is being caused by a gene abnormality that has not
      yet
      > been identified.
      > Are there other members in this web group whose kids have a
      similar
      > pattern (postive biopsy but negative DNA test for MTM)?
      > Or others who have experience/knowledge about this?
      > -Pat
      >
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