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
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
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