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Article

Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.

Brain : a journal of neurology - 1 Oct 2005

Sivakumar Kumaraswamy, Kyriakides Theodoros, Puls Imke, Nicholson Garth A, Funalot Benoît, Antonellis Anthony, Sambuughin Nyamkhishig, Christodoulou Kyproula, Beggs John L, Zamba-Papanicolaou Eleni, Ionasescu Victor, Dalakas Marinos C, Green Eric D, Fischbeck Kenneth H, Goldfarb Lev G

Abstract excerpt

We describe clinical, electrophysiological, histopathological and molecular features of a unique disease caused by mutations in the glycyl-tRNA synthetase (GARS) gene. Sixty patients from five multigenerational families have been evaluated. The disease is characterized by adolescent onset of weakness, and atrophy of thenar and first dorsal interosseus muscles progressing to involve foot and peroneal muscles in...

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PMID: 16014653
DOI: 10.1093/brain/awh590

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Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.PMID 16014653Read ↗

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Mutant glycyl-tRNA synthetase (Gars) ameliorates SOD1(G93A) motor neuron degeneration phenotype but has little affect on Loa dynein heavy chain mutant mice.Semantic proximity Read ↗

Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons.Semantic proximity Read ↗

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CMT-associated mutations in glycyl- and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in Drosophila.Semantic proximity Read ↗

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