Etiology (Examples)
mutation in the mitochondrial arginyl-transfer RNA synthetase 2 gene (RARS2) in PCH6 (MIM.611523) (17847012)
References
Edvardson S, Shaag A, Kolesnikova O, Gomori JM, Tarassov I, Einbinder T, Saada A, Elpeleg O. Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia. Am J Hum Genet. 2007 Oct;81(4):857-62. PMID: 17847012