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Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy
Author(s) -
Akiyama Masashi,
Sakai Kaori,
Ogawa Masaya,
McMillan James R.,
Sawamura Daisuke,
Shimizu Hiroshi
Publication year - 2007
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.20869
Subject(s) - adipose triglyceride lipase , gene duplication , myopathy , triglyceride , lipase , mutation , adipose tissue , medicine , endocrinology , genetics , biochemistry , chemistry , biology , enzyme , cholesterol , gene
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. Muscle Nerve, 2007