A recurrent GARS mutation causes distal hereditary motor neuropathy
Author:
Affiliation:
1. Department of Neurology, Perelman School of MedicineUniversity of Pennsylvania Philadelphia Pennsylvania
2. Department of Human GeneticsUniversity of Michigan Ann Arbor Michigan
3. Department of NeurologyThe University of Iowa Iowa City Iowa
Funder
National Institute of Neurological Disorders and Stroke
Israel National Road Safety Authority
National Institute of General Medical Sciences
Publisher
Wiley
Subject
Neurology (clinical),General Neuroscience
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/jns.12353
Reference22 articles.
1. The Role of Aminoacyl-tRNA Synthetases in Genetic Diseases
2. Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease
3. Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease
4. Compound heterozygosity for loss-of-functionGARSvariants results in a multisystem developmental syndrome that includes severe growth retardation
5. Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies
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