Distal lipid storage myopathy due to PNPLA2 mutation.
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.
Ohkuma
Aya
A
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8502, Japan.
Nonaka
Ikuya
I
Malicdan
May Christine V
MC
Noguchi
Satoru
S
Ohji
Satoru
S
Nomura
Kyoichi
K
Sugie
Hideo
H
Hayashi
Yukiko K
YK
Nishino
Ichizo
I
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
D008049:Lipase; C494794:PNPLA2 protein, human; D000217:Acyltransferases