✦ LIBER ✦
Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy
✍ Scribed by Masashi Akiyama; Kaori Sakai; Masaya Ogawa; James R. McMillan; Daisuke Sawamura; Hiroshi Shimizu
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 167 KB
- Volume
- 36
- Category
- Article
- ISSN
- 0148-639X
No coin nor oath required. For personal study only.
✦ Synopsis
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