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A recurrent GARS mutation causes distal hereditary motor neuropathy.

Authors
  • Lee, Diana C1
  • Meyer-Schuman, Rebecca2
  • Bacon, Chelsea3
  • Shy, Michael E3
  • Antonellis, Anthony2
  • Scherer, Steven S1
  • 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.
Type
Published Article
Journal
Journal of the peripheral nervous system : JPNS
Publication Date
Dec 01, 2019
Volume
24
Issue
4
Pages
320–323
Identifiers
DOI: 10.1111/jns.12353
PMID: 31628756
Source
Medline
Keywords
Language
English
License
Unknown

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. © 2019 Peripheral Nerve Society.

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