title: Distal lipid storage myopathy due to PNPLA2 mutation.
abstract: Distal myopathy is a group of heterogeneous disorders affecting predominantly distal muscles usually appearing from young to late adulthood with very rare cardiac complications. We report a 27-year-old man characterized clinically by distal myopathy and dilated cardiomyopathy, pathologically by lipid storage, and genetically by a PNPLA2 mutation. The patient developed weakness in his lower legs and fingers at age 20 years. Physical examination at age 27 years revealed muscle weakness and atrophy predominantly in lower legs and hands, and severe dilated cardiomyopathy. The patient had a homozygous four-base duplication (c.475_478dupCTCC) in exon 4 of PNPLA2.
authors.affiliation: Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8502, Japan.
authors.forename: Aya
authors.initials: A
authors.lastname: Ohkuma
authors.forename: Ikuya
authors.initials: I
authors.lastname: Nonaka
authors.forename: May Christine V
authors.initials: MC
authors.lastname: Malicdan
authors.forename: Satoru
authors.initials: S
authors.lastname: Noguchi
authors.forename: Satoru
authors.initials: S
authors.lastname: Ohji
authors.forename: Kyoichi
authors.initials: K
authors.lastname: Nomura
authors.forename: Hideo
authors.initials: H
authors.lastname: Sugie
authors.forename: Yukiko K
authors.initials: YK
authors.lastname: Hayashi
authors.forename: Ichizo
authors.initials: I
authors.lastname: Nishino
mesh_terms: D000328:Adult; D001284:Atrophy; D002311:Cardiomyopathy, Dilated / Q000209:etiology / Q000235:genetics / Q000473:pathology; D049310:Distal Myopathies / Q000235:genetics* / Q000473:pathology; D006225:Hand / Q000473:pathology; D006801:Humans; D007866:Leg / Q000473:pathology; D008049:Lipase / Q000235:genetics*; D050356:Lipid Metabolism / Q000235:genetics / Q000502:physiology; D008297:Male; D009051:Mountaineering; D018485:Muscle Fibers, Skeletal / Q000473:pathology; D018908:Muscle Weakness / Q000209:etiology; D018482:Muscle, Skeletal / Q000473:pathology; D009154:Mutation / Q000235:genetics / Q000502:physiology; D000217:Acyltransferases
chemical_list: D008049:Lipase; C494794:PNPLA2 protein, human; D000217:Acyltransferases