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- Title
Cardiac and respiratory failure in limb‐girdle muscular dystrophy 2I.
- Authors
Maja Poppe; John Bourke; Michelle Eagle; Patrick Frosk; Klaus Wrogemann; Cheryl Greenberg; Francesco Muntoni; Thomas Voit; Volker Straub; David Hilton‐Jones; Cheerag Shirodaria; Kate Bushby
- Abstract
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 cardiac status, forced vital capacity was below 75% in 44.4% of the patients. There was no absolute correlation between skeletal muscle weakness and cardiomyopathy or respiratory insufficiency. These complications are a primary part of this specific type of limb‐girdle muscular dystrophy, with important implications for management. Ann Neurol 2004;56:738–741
- Publication
Annals of Neurology, 2004, Vol 56, Issue 5, p738
- ISSN
0364-5134
- Publication type
Article