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P5.46 LPIN1 gene mutations can cause familial rhabdomyolysis and unexpected death in infancy

✍ Scribed by M. von der Hagen; M. Smitka; C. Michot; L. Hubert; Y. de Kevzer; A. Huebner; P. de Lonlay

Book ID
116794888
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
50 KB
Volume
21
Category
Article
ISSN
0960-8966

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LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood
✍ Caroline Michot; Laurence Hubert; Michèle Brivet; Linda De Meirleir; Vassili Val 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 291 KB

Autosomal recessive LPIN1 mutations have been recently described as a novel cause of rhabdomyolysis in a few families. The purpose of the study was to evaluate the prevalence of LPIN1 mutations in patients exhibiting severe episodes of rhabdomyolysis in infancy. After exclusion of primary fatty acid