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M.P.4.13 PNPLA2 mutations in two families with neutral lipid storage myopathy

✍ Scribed by C. Casali; F. Campagna; L. Nanni; E. Pennisi; C. Michailidis; C. Bruno; M. Hirano; F. Pierelli; M. Arca; S. Di Mauro


Book ID
116793187
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
48 KB
Volume
17
Category
Article
ISSN
0960-8966

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Novel duplication mutation in the patati
✍ Masashi Akiyama; Kaori Sakai; Masaya Ogawa; James R. McMillan; Daisuke Sawamura; πŸ“‚ Article πŸ“… 2007 πŸ› John Wiley and Sons 🌐 English βš– 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