Multi-disciplinary research
Publication:

LPIN1 Gene Mutations: A Major Cause of Severe Rhabdomyolysis in Early Childhood (2010)

Author(s): Michot C, Hubert L, Brivet M, De Meirleir L, Valayannopoulos V, Muller-Felber W, Venkateswaran R, Ogier H, Desguerre I, Altuzarra C, Thompson E, Smitka M, Huebner A, Husson M, Horvath R, Chinnery P, Vaz FM, Munnich A, Elpeleg O, Delahodde A, de Keyzer Y, de Lonlay P

      • Date: 17-05-2010
      • Journal: Human Mutation
      • Volume: 31
      • Issue: 7
      • Pages: E1564-E1573
      • Publisher: John Wiley & Sons, Inc.
      • Publication type: Article
      • Bibliographic status: Published

      Keywords: Rhabdomyolysis LPIN1 intragenic deletion founder effect ADIPOSE-TISSUE 3T3-L1 ADIPOCYTES BARTH-SYNDROME DUAL ROLES LIPIN-1 EXPRESSION MYOGLOBINURIA DEFICIENCY BIOSYNTHESIS MYOPATHIES

      Staff

      Professor Patrick Chinnery
      Wellcome Senior Fellow in Clinical Science, Professor of Neurogenetics and Honorary Consultant