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A recurrent GARS mutation causes distal hereditary motor neuropathy
We found a p.Gly327Arg mutation in GARS in two unrelated women, both of whom had a similar phenotype - motor weakness that began in late childhood, distal weakness in the arms and legs, a motor greater than sensory neuropathy with slowing of motor and not sensory conduction velocities. A de novo mut...
Enregistré dans:
| Publié dans: | J Peripher Nerv Syst |
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| Auteurs principaux: | , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
2019
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6910989/ https://ncbi.nlm.nih.gov/pubmed/31628756 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/jns.12353 |
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