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Hello Brad, hello all   Message List  
Reply | Forward Message #249 of 592 |
Hi all, my name's Marco and I'm italian.
I was diagnosed with MM at age of 16. Now I'm 31 and I sometimes use a
wheelchair for outside while I still can walk in sure, safe, well
known places (home).
Dr Brad Williams, I was very happy to see you in the jain's conference
pictures!
I'm here to report an article appeared in Pubmed on Set 14.. and I
wish to have a little help from you in understanding the article,
since it's evident thah I know very little english..

This is the article:

A novel compound heterozygous dysferlin mutation in Miyoshi myopathy
siblings responding to dantrolene.
Hattori H, Nagata E, Oya Y, Takahashi T, Aoki M, Ito D, Suzuki N.

Department of Neurology, Keio University School of Medicine, Tokyo, Japan.

Miyoshi myopathy (MM) is an autosomal recessive distal muscular
dystrophy characterized by mutations of the dysferlin gene. Although
several pairs of homozygous/heterozygous mutations have been reported,
few effective treatments of MM are available. We had observed the
decreased serum creatine kinase (CK) before and after administration
of dantrolene in the elder brother and the increased serum CK before
and after discontinuance of the drug on suspicion of drug-induced
hepatopathy in the younger sister. We report a novel pair of
heterozygous mutations in the 3'-splicing site of exon 26 and the
translation site of exon 28 of the dysferlin gene in two siblings, and
effective treatment of their MM with dantrolene


The question is very simple: is dantrolene (used for HM) good or bad?

Thanks,
Marco.




Thu Sep 20, 2007 1:19 pm

marco.capolupi
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Message #249 of 592 |
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Hi all, my name's Marco and I'm italian. I was diagnosed with MM at age of 16. Now I'm 31 and I sometimes use a wheelchair for outside while I still can walk...
marco.capolupi
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Sep 20, 2007
2:13 pm

Hi Marco, Good to hear from you! I'd also seen that paper. It's very interesting, but there are a few things that aren't clear. First, the patients weren't...
baw1064
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Sep 20, 2007
4:53 pm

... Thanks Brad! Are you working working working at Jain Foundation? As a job? An other question for you.. are you a father Brad? I remember year 2000 or so...
marco.capolupi
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Sep 21, 2007
9:18 am

Yes, I am working (part time, currently) at the Jain Foundation. I think you must be mistaken. No, I'm not a father, but I do know of several patients who are....
baw1064
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Sep 28, 2007
2:15 am
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