Article
Severe dilated cardiomyopathy and quadriceps myopathy due to lamin A/C gene mutation: a phenotypic study.
European journal of heart failure - 1 May 2006
Charniot Jean-Christophe, Desnos Michel, Zerhouni Khaled, Bonnefont-Rousselot Dominique, Albertini Jean-Paul, Salama Jeffrey Zaketto, Bassez Guillaume, Komajda Michel, Artigou Jean-Yves
Abstract excerpt
UNLABELLED: This study reports a family affected by a new phenotype associated with dilated cardiomyopathy and quadriceps myopathy. METHODS: 29 family members underwent a physical and neurological examination, including an electromyogram and biopsy of muscle abnormalities. A cardiac examination was performed in all subjects. RESULTS: The family pedigree (n=72) demonstrated that transmission was autosomal...
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