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Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly

✍ Scribed by Sandrine Vuillaumier-Barrot; Céline Bouchet-Séraphin; Malika Chelbi; Louise Devisme; Samuel Quentin; Steven Gazal; Annie Laquerrière; Catherine Fallet-Bianco; Philippe Loget; Sylvie Odent; Dominique Carles; Anne Bazin; Jacqueline Aziza; Alix Clemenson; Fabien Guimiot; Maryse Bonnière; Sophie Monnot; Christine Bole-Feysot; Jean-Pierre Bernard; Laurence Loeuillet; Marie Gonzales; Koryna Socha; Bernard Grandchamp; Tania Attié-Bitach; Férechté Encha-Razavi; Nathalie Seta


Book ID
119184411
Publisher
American Society of Human Genetics
Year
2012
Tongue
English
Weight
375 KB
Volume
91
Category
Article
ISSN
0002-9297

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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