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Heterogeneous Clinical Phenotypes of dHMN Caused by Mutation in HSPB1 Gene: A Case Series

Mutations in HSPB1 are known to cause Charcot-Marie-Tooth disease type 2F (CMT2F) and distal hereditary motor neuropathy (dHMN). In this study, we presented three patients with mutation in HSPB1 who were diagnosed with dHMN. Proband 1 was a 14-year-old male with progressive bilateral lower limb weak...

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Detalles Bibliográficos
Autores principales:	Shen, Xiya, Zhang, Jiawei, Zhan, Feixia, Tian, Wotu, Jiang, Qingqing, Luan, Xinghua, Zhang, Xiaojie, Cao, Li
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9599773/ https://www.ncbi.nlm.nih.gov/pubmed/36291591 http://dx.doi.org/10.3390/biom12101382

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