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The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy

✍ Scribed by Fischer, Judith; Lefèvre, Caroline; Morava, Eva; Mussini, Jean-Marie; Laforêt, Pascal; Negre-Salvayre, Anne; Lathrop, Mark; Salvayre, Robert


Book ID
109919497
Publisher
Nature Publishing Group
Year
2006
Tongue
English
Weight
305 KB
Volume
39
Category
Article
ISSN
1061-4036

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✍ 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