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Glycyl tRNA Synthetase (GARS) Gene Variant Causes Distal Hereditary Motor Neuropathy V
Joint Authors
Yadav, A.
Chung, Peter
Northrup, Hope
Azmath, Misbah
Moody, Shade
Mosquera, Ricardo A.
Source
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-01-30
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
Distal hereditary motor neuropathies (dHMN) are a rare heterogeneous group of inherited disorders specifically affecting the motor axons, leading to distal limb neurogenic muscular atrophy.
The GARS gene has been identified as a causative gene responsible for clinical features of dHMN type V in families from different ethnic origins and backgrounds.
We present the first cohort of family members of Nigerian descent with a novel heterozygous p.L272R variant on the GARS gene.
We postulate that this variant is the cause of dHMN-V in this family, leading to variable phenotypical expressions that are earlier than reported in previous cases.
The exact cause for the observed clinical heterogeneity within the family is unknown.
One explanation is that there are modifier genes that affect the phenotype.
These cases highlight the possibility of considering pathogenic variants in the GARS gene as a potential cause of early onset axonal polyneuropathy with atypical presentation.
American Psychological Association (APA)
Chung, Peter& Northrup, Hope& Azmath, Misbah& Mosquera, Ricardo A.& Moody, Shade& Yadav, A.. 2018. Glycyl tRNA Synthetase (GARS) Gene Variant Causes Distal Hereditary Motor Neuropathy V. Case Reports in Pediatrics،Vol. 2018, no. 2018, pp.1-4.
https://search.emarefa.net/detail/BIM-1149239
Modern Language Association (MLA)
Chung, Peter…[et al.]. Glycyl tRNA Synthetase (GARS) Gene Variant Causes Distal Hereditary Motor Neuropathy V. Case Reports in Pediatrics No. 2018 (2018), pp.1-4.
https://search.emarefa.net/detail/BIM-1149239
American Medical Association (AMA)
Chung, Peter& Northrup, Hope& Azmath, Misbah& Mosquera, Ricardo A.& Moody, Shade& Yadav, A.. Glycyl tRNA Synthetase (GARS) Gene Variant Causes Distal Hereditary Motor Neuropathy V. Case Reports in Pediatrics. 2018. Vol. 2018, no. 2018, pp.1-4.
https://search.emarefa.net/detail/BIM-1149239
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1149239