Vocal cord paralysis in Charcot–Marie–Tooth type 4b1 disease associated with a novel mutation in the myotubularin-related protein 2 gene: A case report and review of the literature

Charcot–Marie–Tooth type 4B1 (CMT4B1) is an autosomal recessive motor and sensory demyelinating neuropathy characterized by the association of early-onset neurological symptoms and typical histological findings. The natural history and the clinical variability of the disease are still poorly known,...

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Autores principales: Zambon, Alberto Andrea, Natali Sora, Maria Grazia, Cantarella, Giovanna, Cerri, Federica, Quattrini, Angelo, Comi, Giancarlo, Previtali, Stefano Carlo, Bolino, Alessandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pergamon Press 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5425401/
https://www.ncbi.nlm.nih.gov/pubmed/28190646
http://dx.doi.org/10.1016/j.nmd.2017.01.006

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