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.