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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...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2022
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| 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 |