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Alanyl-tRNA synthetase mutation in a family with dominant distal hereditary motor neuropathy
OBJECTIVE: To identify a new genetic cause of distal hereditary motor neuropathy (dHMN), which is also known as a variant of Charcot-Marie-Tooth disease (CMT), in a Chinese family. METHODS: We investigated a Chinese family with dHMN clinically, electrophysiologically, and genetically. We screened fo...
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| Main Authors: | , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Lippincott Williams & Wilkins
2012
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3359507/ https://ncbi.nlm.nih.gov/pubmed/22573628 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e3182574f8f |
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