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Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy

✍ Scribed by Filomena Campagna; Luisa Nanni; Fabiana Quagliarini; Elena Pennisi; Constantine Michailidis; Francesco Pierelli; Claudio Bruno; Carlo Casali; Salvatore DiMauro; Marcello Arca


Book ID
116297639
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
391 KB
Volume
377
Category
Article
ISSN
0006-291X

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## 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