Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype

OBJECTIVE: Neurofilaments are the major scaffolding proteins for the neuronal cytoskeleton, and variants in NEFH have recently been described to cause axonal Charcot-Marie-Tooth disease type 2CC (CMT2CC). METHODS: In this large observational study, we present phenotype–genotype correlations on 30 af...

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Detalles Bibliográficos
Autores principales: Pipis, Menelaos, Cortese, Andrea, Polke, James M, Poh, Roy, Vandrovcova, Jana, Laura, Matilde, Skorupinska, Mariola, Jacquier, Arnaud, Juntas-Morales, Raul, Latour, Philippe, Petiot, Philippe, Sole, Guilhem, Fromes, Yves, Shah, Sachit, Blake, Julian, Choi, Byung-Ok, Chung, Ki Wha, Stojkovic, Tanya, Rossor, Alexander M, Reilly, Mary M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2022
Materias:
Neuromuscular
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8685631/
https://www.ncbi.nlm.nih.gov/pubmed/34518334
http://dx.doi.org/10.1136/jnnp-2021-327186

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8685631/
https://www.ncbi.nlm.nih.gov/pubmed/34518334
http://dx.doi.org/10.1136/jnnp-2021-327186

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