Article
Dilated cardiomyopathy and skeletal myopathy: presenting features of a laminopathy.
BMJ case reports - 17 Jan 2013
Sims-Williams Hugh P, Nye Helen J, Walker Paul R
Abstract excerpt
Mutations in the lamin A/C (LMNA) gene cause significant disruption to skeletal and myocardial muscle, as well as nervous tissue. We describe a case illustrating varied manifestations of a LMNA mutation and the implications for diagnosis and management. We turn to several family studies that describe considerable phenotypic variation arising from LMNA mutations. The discussion focuses on educating the reader in...
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