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...
Saved in:
Main Authors: | Majed Alluqmani (Author), Sulman Basit (Author) |
---|---|
Format: | Book |
Published: |
BMC,
2022-04-01T00:00:00Z.
|
Subjects: | |
Online Access: | Connect to this object online. |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
A novel mutation in SORD gene associated with distal hereditary motor neuropathies
by: Xiaoqin Yuan, et al.
Published: (2024) -
A novel variant of biallelic MME gene associated with autosomal recessive late-onset distal hereditary motor neuropathy in Chinese families
by: Bentuo Zhang, et al.
Published: (2024) -
Hereditary Motor and Sensory Neuropathy Mutation
by: J Gordon Millichap
Published: (1992) -
The Autosomal Recessive Inheritance of Hereditary Gingival Fibromatosis
by: Poulami Majumder, et al.
Published: (2013) -
Nonimmune hydrops fetalis due to autosomal recessive hereditary spherocytosis
by: Dawn M. Hannah, et al.
Published: (2017)