期刊
NEUROMUSCULAR DISORDERS
卷 18, 期 8, 页码 671-674出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2008.06.382
关键词
distal myopathy; lipid storage myopathy; neutral lipid storage disease with myopathy; PNPLA2
资金
- Research on Psychiatric and Neurological Diseases and Mental Health
- Research on Health Sciences focusing on Drug Innovation
- Japanese Health Sciences Foundation [2OB-12, 2OB-13, 19A-4, 19A-7]
- Ministry of Health, Labour and Welfare
- the Program For Promotion of Fundamental Studies in Health Sciences of the National Institute of Biomedical Innovation (NIBIO)
Distal myopathy is a group of heterogeneous disorders affecting predominantly distal Muscles usually appearing from voting 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. (C) 2008 Elsevier B.V. All rights reserved.
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