OMIM: 268200Inheritance: Autosomal recessive
Classification: Not classified
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | LPIN1 |
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| Dna Change: | c.2295-866_2410-30del |
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| Protein Change: | p.Glu766_Ser838del |
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| Mutation Type: | Deletion |
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| Mutation Effect: | Frameshift |
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| Location: | exons 18 and 19 |
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| Transcript: | NM_145693.2 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| 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