A novel single-point mutation of NEFH and biallelic SACS mutation presenting as intermediate form Charcot-Marie-Tooth: A case report in Vietnam

BACKGROUND: Charcot-Marie-Tooth disease (CMT) is among the most common group of inherited neuromuscular diseases. SACS mutations were demonstrated to cause autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). However, there have been few case reports regarding to NEFH and SACS gene mu...

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Detalles Bibliográficos
Autores principales: Truong, Anh Tuan, Luong, Anh Thi Lan, Nguyen, Linh Hai, Nguyen, Huong Van, Nguyen, Diep Ngoc, Nguyen, Ngoc Thi Minh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Scientific Scholar 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9805609/
https://www.ncbi.nlm.nih.gov/pubmed/36600740
http://dx.doi.org/10.25259/SNI_803_2022

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