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157. A novel mutation in LPIN1 gene causing recurrent rhabdomyolysis in childhood: An under-diagnosed condition?

✍ Scribed by J. Nance; C. Tesi-Rocha; B. Kirmse; K. Raymond

Book ID
116371439
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
39 KB
Volume
123
Category
Article
ISSN
1388-2457

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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