Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I.

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 involv...

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Bibliographic Details
Main Authors: Poppe, M, Bourke, J, Eagle, M, Frosk, P, Wrogemann, K, Greenberg, C, Muntoni, F, Voit, T, Straub, V, Hilton-Jones, D, Shirodaria, C, Bushby, K
Format: Journal article
Language:English
Published: 2004