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1661Re: [Myotubular_Myopathy] Familial History

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  • Lill Tove
    Mar 1, 2005
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      Hi.
       
      Remi is the spontaneous case. His father was 36 years old when i got pregnant.
       
      Lill
      ----- Original Message -----
      Sent: Wednesday, March 02, 2005 12:23 AM
      Subject: Re: [Myotubular_Myopathy] Familial History

      Scott,
       
      sorry, I had no time to write earlier: Our sons Tobias and his still-born brother Adrian were diagnosed as X-linked. We also found out, that I'm a carrier, so they "got" it from me, but there is no prior family history! We also tested my mom and she does not carry it, so we think, the spontaneous case is ME! I am the only child of my mother and my dad died 16 years ago, so were are not able to test him. My father was not very young when I was born (54 years old) - some years ago, I was wondering, if the fathers age could cause such "defects".
       
      Take care,
      Rita
      Mason's Myotubular Myopathy has been diagnosed as X-Linked, which if I am understanding things correctly means it came through mom. We have researched her family and cannot identify any other cases. Her mother had a son who was normal and three daughters. Two of the daughters each have two sons who are normal. My wife is the third daughter, Mason is our first son. My wife's sister has two daughters (this gets confusing) who each have a son who is "normal." Mason may be a spontaneous case. My wife is being tested to see if she is a carrier, if not it means he is indeed spontaneous. Has anyone else here had a child with x-linked myotubular with no prior family history ?
       

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