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

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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Bibliographic Details
Main Authors: Majed Alluqmani, Sulman Basit
Format: Article
Language:English
Published: BMC 2022-04-01
Series:BMC Medical Genomics
Subjects:
Hereditary neuropathy
Nerve conduction
Electromyography
SORD mutation
Online Access:https://doi.org/10.1186/s12920-022-01238-4

Internet

https://doi.org/10.1186/s12920-022-01238-4

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