Gene Symbol: LPIN1
OMIM: 605518Chromosome location: 2p25.1
Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD | Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| France | NA | NA | 3 patients/ 6 patients | NA | Michot C et al., 2010Michot 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, . LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood.. Hum. Mutat.. 2010; 31(7):E1564-73 |
References
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, LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood.Hum. Mutat.. 2010; 31(7):E1564-73