1 | LPIN1, MGAR |
Rhabdomyolysis-Associated Mutations in Human LPIN1 Lead to Loss of Phosphatidic Acid Phosphohydrolase Activity. | |
Schweitzer GG, Collier SL, Chen Z, Eaton JM, Connolly AM, Bucelli RC, Pestronk A, Harris TE, Finck BN. | |
JIMD Rep IMD Rep. 2015 May 13. [Epub ahead of print] 2015 | |
2 | LPIN1, LPIN2, LPIN3, MGAR |
Role of the lipin family in metabolic muscular diseases: an update | |
Michot and al, | |
in press 2011 | |
3 | LPIN1, MGAR |
LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood. | |
Michot C, Hubert L, Brivet M, De Meirleir L, Valayannopoulos V, Müller-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. | |
Hum Mutat 31(7):E1564-73. 2010 | |