Charcot–Marie–Tooth disease type 2F associated with biallelic HSPB1 mutations

OBJECTIVE: This work aims to expand knowledge regarding the genetic spectrum of HSPB1‐related diseases. HSPB1 is a gene encoding heat shock protein 27, and mutations in HSPB1 have been identified as the cause of axonal Charcot–Marie–Tooth (CMT) disease type 2F and distal hereditary motor neuropathy...

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Detalhes bibliográficos
Publicado no:Ann Clin Transl Neurol
Main Authors: Abati, Elena, Magri, Stefania, Meneri, Megi, Manenti, Giulia, Velardo, Daniele, Balistreri, Francesca, Pisciotta, Chiara, Saveri, Paola, Bresolin, Nereo, Comi, Giacomo Pietro, Ronchi, Dario, Pareyson, Davide, Taroni, Franco, Corti, Stefania
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2021
Assuntos:
Case Study
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8108422/
https://ncbi.nlm.nih.gov/pubmed/33943041
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.51364
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