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Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease
OBJECTIVES: To analyse and describe the clinical and genetic spectrum of Charcot-Marie-Tooth disease (CMT) caused by mutations in the neurofilament light polypeptide gene (NEFL). METHODS: Combined analysis of new patients with NEFL-related CMT, identified from those attending clinics at the particip...
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| Опубликовано в: : | J Neurol Neurosurg Psychiatry |
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| Главные авторы: | , , , , , , , , , , , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
2017
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5580821/ https://ncbi.nlm.nih.gov/pubmed/28501821 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jnnp-2016-315077 |
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