Cardiac function and exercise adaptation in 8 children with LPIN1 mutations-Reference-Cited by-同舟云学术

Cardiac function and exercise adaptation in 8 children with LPIN1 mutations

Published:2018-03 Issue:3 Volume:123 Page:375-381
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Legendre Antoine,Khraiche Diala,Ou Phalla,Mauvais François-Xavier,Madrange Marine,Guemann Anne-Sophie,Jais Jean-Philippe,Bonnet Damien,Hamel Yamina,de Lonlay Pascale

Funder

Jérôme Lejeune

AFM

Fondation de l'Avenir

Fondation Bettencourt

ANR

Fondation Maladies Rares

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference62 articles.

1. LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood;Michot;Hum. Mutat.,2010

2. Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia;Michot;J. Inherit. Metab. Dis.,2012

3. Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood;Zeharia;Am. J. Hum. Genet.,2008

4. Rhabdomyolysis-associated mutations in human LPIN1 lead to loss of phosphatidic acid phosphohydrolase activity;Schweitzer;JIMD Rep.,2015

5. Fatal rhabdomyolysis in 2 children with LPIN1 mutations;Bergounioux;J. Pediatr.,2012

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