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Charcot Marie Tooth disease type 4J with complex central nervous system features
We describe a family with Charcot Marie Tooth disease type 4J presenting with features of Charcot Marie Tooth disease plus parkinsonism and aphemia. Genetic testing found two variants in the FIG4 gene: c.122T>C (p.I41T) – the most common Charcot Marie Tooth disease type 4J variant – and c.1949‐10...
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| Pubblicato in: | Ann Clin Transl Neurol |
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| Autori principali: | , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
John Wiley and Sons Inc.
2018
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5817837/ https://ncbi.nlm.nih.gov/pubmed/29468183 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.525 |
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