Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy.

作者: Masashi Akiyama , Kaori Sakai , Masaya Ogawa , James R. McMillan , Daisuke Sawamura

DOI: 10.1002/MUS.20869

关键词: PatatinBiologyEndocrinologyNeutral lipid storage diseaseIchthyosisInternal medicineMyopathyLipid metabolismTriglycerideAdipose triglyceride lipaseMutation

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

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