Article
High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation.
Pacing and clinical electrophysiology : PACE - 1 Nov 2000
Bécane H M, Bonne G, Varnous S, Muchir A, Ortega V, Hammouda E H, Urtizberea J A, Lavergne T, Fardeau M, Eymard B, Weber S, Schwartz K, Duboc D
Abstract excerpt
We studied 54 living relatives from a large French kindred, among which 17 members presented with a cardiomyopathy transmitted on an autosomal dominant mode. Five of these individuals had clinical manifestations of muscle disease phenotypically consistent with Emery-Dreifuss muscular dystrophy. Genetic analysis of this kindred had demonstrated a nonsense mutation in the LMNA gene located on chromosome 1q11-q23....
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