Infantile‐onset CMT2D/dSMA‐V in a Chinese family with parental germline mosaicism for a novel mutation in the GARS1 gene

BACKGROUND AND AIMS: Both Charcot‐Marie‐Tooth disease type 2D (CMT2D) and distal spinal muscular atrophy type V (dSMA‐V) are GARS1 disease phenotypes involving axonal peripheral neuropathy. Patients often develop clinical symptoms in their teens. Herein, we reported a Chinese family with infantile‐o...

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Detalles Bibliográficos
Autores principales: Huang, Yufeng, Bi, Bo, Zhao, Peiwei, Yu, Ting, Luo, Sukun, Tan, Li, Liu, Zhisheng, Liu, Jie, He, Xuelian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8801134/
https://www.ncbi.nlm.nih.gov/pubmed/34898052
http://dx.doi.org/10.1002/mgg3.1846

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8801134/
https://www.ncbi.nlm.nih.gov/pubmed/34898052
http://dx.doi.org/10.1002/mgg3.1846

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