title: Multisystem disorder and limb girdle muscular dystrophy caused by LMNA p.R28W mutation.
abstract: Primary laminopathies caused by mutations in the LMNA gene typically display an extremely pleiotropic clinical presentation including cardiac, muscular and metabolic phenotypes. Additionally, many atypical laminopathies have been described combining features of two or more of the distinctive disorders or syndromes associated with LMNA mutations. We report on a 46-year-old female patient with a heterozygous p.R28W LMNA mutation, who presented with a novel clinical phenotype comprising severe limb-girdle muscular dystrophy, pronounced partial lipodystrophy, cardiac conduction defect, polycystic ovary disease and a metabolic syndrome with insulin-resistant diabetes mellitus and hypertriglyceridemia. On examination, her 23-year old daughter solely showed early signs of a LGMD phenotype.
authors.affiliation: Department of Neurology, University of Erlangen, Schwabachanlage 6, 91054 Erlangen, Germany.
authors.forename: Matthias
authors.initials: M
authors.lastname: Türk
authors.forename: Manfred
authors.initials: M
authors.lastname: Wehnert
authors.forename: Rolf
authors.initials: R
authors.lastname: Schröder
authors.forename: Frédéric
authors.initials: F
authors.lastname: Chevessier
mesh_terms: D001145:Arrhythmias, Cardiac / Q000235:genetics; D053840:Brugada Syndrome; D000075224:Cardiac Conduction System Disease; D005260:Female; D020022:Genetic Predisposition to Disease; D006329:Heart Conduction System / Q000002:abnormalities; D006579:Heterozygote; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D024821:Metabolic Syndrome / Q000150:complications; D008875:Middle Aged; D049288:Muscular Dystrophies, Limb-Girdle / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D055815:Young Adult
chemical_list: C494847:LMNA protein, human; D034904:Lamin Type A