Article
Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I.
Annals of neurology - 1 Nov 2004
Poppe Maja, Bourke John, Eagle Michelle, Frosk Patrick, Wrogemann Klaus, Greenberg Cheryl, Muntoni Francesco, Voit Thomas, Straub Volker, Hilton-Jones David, Shirodaria Cheerag, Bushby Kate
Abstract excerpt
Mutations in the gene encoding fukutin-related protein cause limb-girdle muscular dystrophy 2I. In this multicenter retrospective analysis of 38 patients, 55.3% had cardiac abnormalities, of which 24% had developed cardiac failure. Heterozygotes for the common C826A mutation developed cardiac involvement earlier than homozygotes. All patients initially improved while receiving standard therapy. Independent of...
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