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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Detalhes bibliográficos
Publicado no:Muscle Nerve
Main Authors: Jerath, Nivedita U., Mankodi, Ami, Crawford, Thomas O., Grunseich, Christopher, Baloui, Hasna, Nnamdi-Emeratom, Chioma, Schindler, Alice B., Heiman-Patterson, Terry, Chrast, Roman, Shy, Michael E.
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
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Article
Acesso em linha: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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