𝔖 Bobbio Scriptorium
✦   LIBER   ✦

P5.44 Novel mutation in PNPLA2 presenting with distal myopathy and lipodystrophy

✍ Scribed by A. Martinez Arroyo; B. Naberhaus; W.C. Liang; I. Nishino; E. Alonso; A. Jucgla; M. Olive


Book ID
116794886
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
47 KB
Volume
21
Category
Article
ISSN
0960-8966

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


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