LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood
Human Mutation - Tập 31 Số 7 - Trang E1564-E1573
Caroline Michot1,2, Laurence Hubert1, Michèle Brivet3, Linda De Meırleır4, Vassili Valayannopoulos5, Wolfgang Müller‐Felber6, Venkateswaran Ramesh7, Hélène Ogier8, Isabelle Desguerre5, Cécilia Altuzarra9, Elizabeth Thompson10, Maja von der Hagen11, Angela Huebner11, Marie Husson12, Rita Horváth13, Patrick F. Chinnery14, Frédéric M. Vaz15, Arnold Münnich1, Orly Elpeleg16, Agnès Delahodde17, Yves de Keyzer1, Pascale de Lonlay5,1,8
1Inserm U781 - Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Gh Necker - Enfants Malades 149, Rue de Sevres 75743 PARIS CEDEX 15 - France)
2Metabolic Diseases (75015;Paris - France)
3biochemistry (94270;Le Kremlin-Bicetre - France)
4Pediatric neurology- metabolic diseases (Brussels - France)
5Department of Neuro-Metabolism (Paris - France)
6Department of Pediatrics (Munich - France)
7Pediatrics (Newcastle upon Tyne - France)
8pediatric metabolic unit (le kremlin bicetre - France)
9Pediatrics (Besançon - France)
10SA Clinical Genetics (North Adelaide - France)
11Neuropaediatrics (Dresden - France)
12Department of Pediatrics (Bordeaux - France)
13Mitochondrial Research Group, Institute for Aging and Health (Newcastle upon Tyne - France)
14Mitochondrial Research Group (ne24hh;newcastle - France)
15Department of Clinical Chemistry (Amsterdam - France)
16Hadassah Medical Center (91120;Jerusalem - France)
17IGM - Institut de génétique et microbiologie [Orsay] (Bâtiments 400 et 409
UFR des Sciences - Université Paris-Sud 11
15, rue Georges Clémenceau - F 91405 ORSAY Cedex - France)
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Human Mutation
Tập 31 Số 7
E1564-E1573
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