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Infantile onset CMT2D/dSMA V in monozygotic twins due to a mutation in the anticodon binding domain of GARS
Mutations in the GARS gene cause CMT2D and dSMA V—allelic disorders characterized by predominantly distal upper extremity weakness and atrophy, typically beginning during the second decade of life. Here, we report monozygotic twin girls with onset of weakness in infancy and a previously reported GAR...
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| Autors principals: | , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2012
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3572939/ https://ncbi.nlm.nih.gov/pubmed/22462675 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1529-8027.2012.00370.x |
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