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J Peripher Nerv Syst. 2019 Oct 19. doi: 10.1111/jns.12353. [Epub ahead of print]

A recurrent GARS mutation causes distal hereditary motor neuropathy.

Author information

1
Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
2
Department of Human Genetics, University of Michigan, Ann Arbor, Michigan.
3
Department of Neurology, The University of Iowa, Iowa City, Iowa.

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.

KEYWORDS:

CMT; Charcot-Marie-Tooth disease; HMN; aminoacyl transferase

PMID:
31628756
DOI:
10.1111/jns.12353

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