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Charcot-Marie-Tooth disease type 1C: Clinical and electrophysiological findings for the c.334G>A (p.Gly112Ser) LITAF/SIMPLE mutation
INTRODUCTION: Charcot–Marie–Tooth disease type 1C (CMT1C) is a rare, dominantly inherited neuropathy caused by mutations in the lipopolysaccharide-induced tumor necrosis factor (LITAF) or small integral membrane protein of the lysosome/late endosome (SIMPLE) gene. METHODS: We present a case series c...
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| Publié dans: | Muscle Nerve |
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| Auteurs principaux: | , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
2017
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5587391/ https://ncbi.nlm.nih.gov/pubmed/28164329 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mus.25600 |
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