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Charcot Marie Tooth Disease type 4C: Novel Mutations, Clinical Presentations, and Diagnostic Challenges
OBJECTIVE: To analyze and describe atypical presentations of Charcot Marie Tooth disease type 4C (CMT 4C). METHODS: We present clinical and physiologic features of five patients with CMT4C caused by biallelic private mutations of SH3TC2. RESULTS: All patients manifested scoliosis and nerve conductio...
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| Publicat a: | Muscle Nerve |
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| Autors principals: | , , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2017
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5886823/ https://ncbi.nlm.nih.gov/pubmed/28981955 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mus.25981 |
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