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Mutations in LPIN1 Cause Recurrent Acute Myoglobinuria in Childhood

✍ Scribed by Avraham Zeharia; Avraham Shaag; Riekelt H. Houtkooper; Tareq Hindi; Pascale de Lonlay; Gilli Erez; Laurence Hubert; Ann Saada; Yves de Keyzer; Gideon Eshel; Frédéric M. Vaz; Ophry Pines; Orly Elpeleg


Book ID
113422534
Publisher
American Society of Human Genetics
Year
2008
Tongue
English
Weight
455 KB
Volume
83
Category
Article
ISSN
0002-9297

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LPIN1 gene mutations: a major cause of s
✍ 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