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

Abstract 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...

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Bibliografiske detaljer
Main Authors: Majed Alluqmani, Sulman Basit
Format: Artigo
Sprog:Inglês
Udgivet: BMC 2022-04-01
Serier:BMC Medical Genomics
Fag:
Online adgang:https://doi.org/10.1186/s12920-022-01238-4
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