Association of SORD mutation with autosomal recessive asymmetric distal hereditary motor neuropathy

BACKGROUND: The aim of this study was to identify the underlying genetic defect in a family segregating autosomal recessive asymmetric hereditary motor neuropathy (HMN). Asymmetric HMN has not been associated earlier with SORD mutations. METHODS: For this study, we have recruited a family and collec...

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Detalles Bibliográficos
Autores principales: Alluqmani, Majed, Basit, Sulman
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9014617/
https://www.ncbi.nlm.nih.gov/pubmed/35436891
http://dx.doi.org/10.1186/s12920-022-01238-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9014617/
https://www.ncbi.nlm.nih.gov/pubmed/35436891
http://dx.doi.org/10.1186/s12920-022-01238-4

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