Expanding the Phenotypic and Genetic Spectrum of Neuromuscular Diseases Caused by DYNC1H1 Mutations

OBJECTIVES: Spinal muscular atrophy with lower extremity predominance 1 (SMALED1) and Charcot–Marie-Tooth diseasetype 2O (CMT2O) are two kinds of hereditary neuromuscular diseases caused by DYNC1H1 mutations. In this study, we reported two patients with SMALED1 caused by DYNC1H1 mutations. The genot...

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Detalles Bibliográficos
Autores principales: Li, Jia-Tong, Dong, Si-Qi, Zhu, Dong-Qing, Yang, Wen-Bo, Qian, Ting, Liu, Xiao-Ni, Chen, Xiang-Jun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9309508/
https://www.ncbi.nlm.nih.gov/pubmed/35899263
http://dx.doi.org/10.3389/fneur.2022.943324

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9309508/
https://www.ncbi.nlm.nih.gov/pubmed/35899263
http://dx.doi.org/10.3389/fneur.2022.943324

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