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The Impact of a Late Diagnosis: A Case of Charcot-Marie-Tooth Type 1

Charcot-Marie-Tooth (CMT) is a hereditary motor and sensory neuropathy. The disease consists of a spectrum of inherited disorders caused by pathogenic variants in genes, which lead to multiple different clinical phenotypes. It is one of the most common inherited neuromuscular disorders. This disease...

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Detalles Bibliográficos
Autores principales: Albuquerque, Fernando, Cunha, Deolinda, Rodrigues, Ana C, Nunes, Rita, Fernandes, Filipe G, Pipa, Teresa, Marques, Ana, Moreira, Carla
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9922377/
https://www.ncbi.nlm.nih.gov/pubmed/36788827
http://dx.doi.org/10.7759/cureus.33727