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M.P.4.15 Adipose triglyceride lipase gene (PNPLA2) mutations in patients with myopathy related to neutral lipid storage disease

✍ Scribed by P. Laforêt; J. Mussini; C. Lacroix; E. Hammouda; Y. Chau Hu; C. Lefèvre; R. Salvayre; B. Eymard; J. Fischer

Book ID
116793189
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
62 KB
Volume
17
Category
Article
ISSN
0960-8966

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Novel duplication mutation in the patati
Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy
✍ Masashi Akiyama; Kaori Sakai; Masaya Ogawa; James R. McMillan; Daisuke Sawamura; 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 167 KB

## 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\_478dup