Journal article
A recurrent GARS mutation causes distal hereditary motor neuropathy
Journal of the peripheral nervous system, Vol.24(4), pp.320-323
12/2019
DOI: 10.1111/jns.12353
PMCID: PMC6910989
PMID: 31628756
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.
Details
- Title: Subtitle
- A recurrent GARS mutation causes distal hereditary motor neuropathy
- Creators
- Diana C Lee - Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PennsylvaniaRebecca Meyer-Schuman - Department of Human Genetics, University of Michigan, Ann Arbor, MichiganChelsea Bacon - Department of Neurology, The University of Iowa, Iowa City, IowaMichael E Shy - Department of Neurology, The University of Iowa, Iowa City, IowaAnthony Antonellis - Department of Human Genetics, University of Michigan, Ann Arbor, MichiganSteven S Scherer - Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania
- Resource Type
- Journal article
- Publication Details
- Journal of the peripheral nervous system, Vol.24(4), pp.320-323
- DOI
- 10.1111/jns.12353
- PMID
- 31628756
- PMCID
- PMC6910989
- NLM abbreviation
- J Peripher Nerv Syst
- ISSN
- 1085-9489
- eISSN
- 1529-8027
- Publisher
- United States
- Grant note
- U2C TR002818 / NCATS NIH HHS T32 GM007544 / NIGMS NIH HHS F31 NS108510 / NINDS NIH HHS U54 NS065712 / NINDS NIH HHS R01 GM118647 / NIGMS NIH HHS
- Language
- English
- Date published
- 12/2019
- Academic Unit
- Neurology; Molecular Physiology and Biophysics; Psychiatry; Stead Family Department of Pediatrics; Iowa Neuroscience Institute
- Record Identifier
- 9984070017402771
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