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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… Click to show full abstract
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.
Journal Title: Journal of the Peripheral Nervous System
Year Published: 2019
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