A recurrent GARS mutation causes distal hereditary motor neuropathy.
Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
Department of Human Genetics, University of Michigan, Ann Arbor, Michigan.
Department of Neurology, The University of Iowa, Iowa City, Iowa.
- Published Article
Journal of the peripheral nervous system : JPNS
- Publication Date
Dec 01, 2019
We found a p.Gly327Arg mutation in GARS in two unrelated women, both of whom had a similar phenotype - motor weakness that began in late childhood, distal weakness in the arms and legs, a motor greater than sensory neuropathy with slowing of motor and not sensory conduction velocities. A de novo mutation was proven in one patient and suspected in the other. The p.Gly327Arg GARS variant did not support yeast growth in a complementation assay, showing that this variant severely impairs protein function. Thus, the p.Gly327Arg GARS mutation causes a distal motor neuropathy. © 2019 Peripheral Nerve Society.
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This record was last updated on 12/31/2019 and may not reflect the most current and accurate biomedical/scientific data available from NLM.
The corresponding record at NLM can be accessed at https://www.ncbi.nlm.nih.gov/pubmed/31628756