Article
LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood.
Human mutation - 1 Jul 2010
Michot Caroline, Hubert Laurence, Brivet Michèle, De Meirleir Linda, Valayannopoulos Vassili, Müller-Felber Wolfgang, Venkateswaran Ramesh, Ogier Hélène, Desguerre Isabelle, Altuzarra Cécilia, Thompson Elizabeth, Smitka Martin, Huebner Angela, Husson Marie, Horvath Rita, Chinnery Patrick, Vaz Frederic M, Munnich Arnold, Elpeleg Orly, Delahodde Agnès, de Keyzer Yves, de Lonlay Pascale
Abstract excerpt
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 a...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.