[Autosomal dominant limb-girdle muscular dystrophy associated with conduction defects (LGMD1B): a description of 8 new families with the LMNA gene mutations].

doi:10.1016/s0035-3787(05)84972-0

Article

[Autosomal dominant limb-girdle muscular dystrophy associated with conduction defects (LGMD1B): a description of 8 new families with the LMNA gene mutations].

Revue neurologique - 1 Jan 2005

Ben Yaou R, Bécane H-M, Demay L, Laforet P, Hannequin D, Bohu P-A, Drouin-Garraud V, Ferrer X, Mussini J-M, Ollagnon E, Petiot P, Penisson-Besnier I, Streichenberger N, Toutain A, Richard P, Eymard B, Bonne G

Abstract excerpt

INTRODUCTION: Limb girdle muscular dystrophy type 1b (LGMD1B), due to LMNA gene mutations, is a relatively rare form of LGMD characterized by proximal muscle involvement associated with heart involvement comprising atrio-ventricular conduction blocks and dilated cardiomyopathy. Its clinical and genetic diagnosis is crucial for cardiac management and genetic counselling. Seven LMNA mutations have been previously...

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[Autosomal dominant limb-girdle muscular dystrophy associated with conduction defects (LGMD1B): a description of 8 new families with the LMNA gene mutations].

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