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CHCHD10 variant p.(Gly66Val) causes axonal Charcot-Marie-Tooth disease
OBJECTIVE: We describe the phenotype consistent with axonal Charcot-Marie-Tooth disease type 2 (CMT2) in 4 families with a c.197G>T (p.(Gly66Val)) variant in CHCHD10. METHODS: We sequenced the CHCHD10 gene in a cohort of 107 families with CMT2 of unknown etiology. The patients were characterized...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | Neurol Genet |
|---|---|
| Prif Awduron: | , , , , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
Wolters Kluwer
2015
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| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4821082/ https://ncbi.nlm.nih.gov/pubmed/27066538 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000003 |
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