作者: Masashi Akiyama , Kaori Sakai , Masaya Ogawa , James R. McMillan , Daisuke Sawamura
DOI: 10.1002/MUS.20869
关键词: Patatin 、 Biology 、 Endocrinology 、 Neutral lipid storage disease 、 Ichthyosis 、 Internal medicine 、 Myopathy 、 Lipid metabolism 、 Triglyceride 、 Adipose triglyceride lipase 、 Mutation
摘要: 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 present study novel homozygous mutation c.475_478dupCTCC (p.Gln160ProfsX19) patatin domain, ATGL active site, was detected woman with NLSD severe myopathy. The results suggest that premature truncation domain causes Muscle Nerve, 2007