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Article

Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2.

Journal of inherited metabolic disease - 1 May 2012

Glamuzina Emma, Brown Ruth, Hogarth Kieran, Saunders Dawn, Russell-Eggitt Isabelle, Pitt Matthew, de Sousa Carlos, Rahman Shamima, Brown Garry, Grunewald Stephanie

Abstract excerpt

Pontocerebellar hypoplasia type 6 (PCH6) (MIM #611523) is a recently described disorder caused by mutations in RARS2 (MIM *611524), the gene encoding mitochondrial arginyl-transfer RNA (tRNA) synthetase, a protein essential for translation of all mitochondrially synthesised proteins. This case confirms that progressive cerebellar and cerebral atrophy with microcephaly and complex epilepsy are characteristic...

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Identifiers

PMID: 22086604
DOI: 10.1007/s10545-011-9413-6

Genes

RARS2

Provenance

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Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2.PMID 22086604Read ↗

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Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.Semantic proximity Read ↗

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Clinical and genetic analysis of infants with pontocerebellar hypoplasia type 6 caused by RARS2 variationsSemantic proximity Read ↗

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