期刊
MUSCLE & NERVE
卷 36, 期 6, 页码 856-859出版社
JOHN WILEY & SONS INC
DOI: 10.1002/mus.20869
关键词
ATGL; myopathy; patatin; PNPLA2
Recently, mutations in PNPLA2 encoding adipose triglyceride lipase (ATGL) were reported to underlie a neutral lipid storage disease (NLSD) subgroup characterized by mild myopathy and the absence of ichthyosis. In the present study a novel homozygous PNPLA2 mutation c.475_478dupCTCC (p.Gln160ProfsX19) in the patatin domain, the ATGL active site, was detected in a woman with NLSD and severe myopathy. The present results suggest that a premature truncation mutation in the patatin domain causes NLSD with severe myopathy.
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