Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy
M Akiyama, K Sakai, M Ogawa… - Muscle & Nerve …, 2007 - Wiley Online Library
M Akiyama, K Sakai, M Ogawa, JR McMillan, D Sawamura, H Shimizu
Muscle & Nerve: Official Journal of the American Association of …, 2007•Wiley Online LibraryRecently, 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 …
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 …
Abstract
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
Wiley Online Library