Mutational analysis of glycyl-tRNA synthetase (GARS) gene in Hirayama Disease

Sporadic juvenile muscular atrophy of the distal upper extremity or Hirayama's Disease (HD) and autosomal dominant motor distal neuronopathy/axonopathy (CMT2D/dSMA-V), produced by glycyl-tRNA synthetase (GARS) gene mutations, share some clinical features including: young age of onset, predilect...

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Auteurs principaux: Blumen, Sergiu C., Drory, Vivian E., Sadeh, Menachem, El-Ad, Baruch, Soimu, Uri, Groozman, Galina B., Bouchard, Jean-Pierre, Goldfarb, Lev G.
Format: Artigo
Langue:Inglês
Publié: 2010
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2864347/
https://ncbi.nlm.nih.gov/pubmed/19412816
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/17482960902849823
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