Early and late manifestations of neuropathy due to HSPB1 mutation in the Jewish Iranian population

OBJECTIVE: Mutations in the HSPB1 gene are associated with a distal hereditary motor neuropathy type 2 (dHMN2) or Charcot‐Marie‐Tooth disease type 2F (CMT2F), usually with autosomal dominant inheritance. This study aimed to describe the phenotype of the HSPB1 c.407G>T (p.Arg136Leu) mutation at ea...

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Detalhes bibliográficos
Publicado no:Ann Clin Transl Neurol
Main Authors: Greenbaum, Lior, Ben‐David, Merav, Nikitin, Vera, Gera, Orna, Barel, Ortal, Hersalis‐Eldar, Adi, Shamash, Jana, Shimshoviz, Noam, Reznik‐Wolf, Haike, Shohat, Mordechai, Dominissini, Dan, Pras, Elon, Dori, Amir
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2021
Assuntos:
Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8164855/
https://ncbi.nlm.nih.gov/pubmed/33973728
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.51362
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