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: Aya Ohkuma, Ikuya Nonaka, May Christine V Malicdan, Satoru Noguchi, Satoru Ohji, Kyoichi Nomura, Hideo Sugie, Yukiko K Hayashi, Ichizo Nishino
• Journal: Neuromuscular disorders : NMD (Neuromuscul Disord) Vol. 18 Issue 8 Pg. 671-4 (Aug 2008) ISSN: 0960-8966 [Print] England
• PMID: 18657972 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Lipase
• PNPLA2 protein, human

Topics

• Adult
• Atrophy
• Cardiomyopathy, Dilated (etiology, genetics, pathology)
• Distal Myopathies (genetics, pathology)
• Hand (pathology)
• Humans
• Leg (pathology)
• Lipase (genetics)
• Lipid Metabolism (genetics, physiology)
• Male
• Mountaineering
• Muscle Fibers, Skeletal (pathology)
• Muscle Weakness (etiology)
• Muscle, Skeletal (pathology)
• Mutation (genetics, physiology)