✦ LIBER ✦

Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene

✍ Scribed by Fiorillo, Chiara; Brisca, Giacomo; Cassandrini, Denise; Scapolan, Sara; Astrea, Guja; Valle, Maura; Scuderi, Francesca; Trucco, Federica; Natali, Andrea; Magnano, Gianmichele; Gazzerro, Elisabetta; Minetti, Carlo; Arca, Marcello; Santorelli, Filippo M.; Bruno, Claudio

Book ID: 122509022
Publisher: Elsevier Science
Year: 2013
Tongue: English
Weight: 678 KB
Volume: 430
Category: Article
ISSN: 0006-291X
DOI: 10.1016/j.bbrc.2012.10.127

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

The gene encoding adipose triglyceride l

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

✍ Fischer, Judith; Lefèvre, Caroline; Morava, Eva; Mussini, Jean-Marie; Laforêt, P 📂 Article 📅 2006 🏛 Nature Publishing Group 🌐 English ⚖ 305 KB

P4.54 Splicing mutations in PNPLA2 gene

P4.54 Splicing mutations in PNPLA2 gene cause neutral lipid storage disease with asymmetric myopathy with rimmed vacuoles

✍ C. Yan; W. Li; Y. Zhao; T. Dai; B. Wen; S. Liu; J. Wu; D. Li 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 37 KB

M.P.4.13 PNPLA2 mutations in two familie

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

✍ C. Casali; F. Campagna; L. Nanni; E. Pennisi; C. Michailidis; C. Bruno; M. Hiran 📂 Article 📅 2007 🏛 Elsevier Science 🌐 English ⚖ 48 KB

G.P.11.02 Early-onset neutral lipid stor

G.P.11.02 Early-onset neutral lipid storage disease with myopathy due to PNPLA2 mutations

✍ D. Cassandrini; F. Trucco; S. Scapolan; G.M. Magnano; S. Pessano; F. Scuderi; A. 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 41 KB

M.P.4.15 Adipose triglyceride lipase gen

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

✍ P. Laforêt; J. Mussini; C. Lacroix; E. Hammouda; Y. Chau Hu; C. Lefèvre; R. Salv 📂 Article 📅 2007 🏛 Elsevier Science 🌐 English ⚖ 62 KB

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