title: Dilated cardiomyopathy and skeletal myopathy: presenting features of a laminopathy.
abstract: 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 recognition of potential presentations of LMNA mutations.
authors: Department of Neurology, University Hospital of North Staffordshire, Stoke on Trent, UK. simswilliams@doctors.org.uk
authors: Hugh P
authors: HP
authors: Sims-Williams
authors: Helen J
authors: HJ
authors: Nye
authors: Paul R
authors: PR
authors: Walker
mesh_terms: D002311:Cardiomyopathy, Dilated / Q000235:genetics* / Q000378:metabolism; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D004452:Echocardiography; D004562:Electrocardiography; D006801:Humans; D034904:Lamin Type A / Q000235:genetics* / Q000378:metabolism; D008060:Lipodystrophy / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D009135:Muscular Diseases / Q000235:genetics* / Q000378:metabolism; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype
chemical_list: C494847:LMNA protein, human; D034904:Lamin Type A; D004247:DNA