A recurrent GARS mutation causes distal hereditary motor neuropathy.
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ABSTRACT:
SUBMITTER: Lee DC
PROVIDER: S-EPMC6910989 | biostudies-literature | 2019 Dec
REPOSITORIES: biostudies-literature
Publications
A recurrent GARS mutation causes distal hereditary motor neuropathy.
Lee Diana C DC Meyer-Schuman Rebecca R Bacon Chelsea C Shy Michael E ME Antonellis Anthony A Scherer Steven S SS
Journal of the peripheral nervous system : JPNS 20191122 4
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 fun ...[more]
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