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A recurrent GARS mutation causes distal hereditary motor neuropathy

dc.contributor.authorLee, Diana C.
dc.contributor.authorMeyer‐schuman, Rebecca
dc.contributor.authorBacon, Chelsea
dc.contributor.authorShy, Michael E.
dc.contributor.authorAntonellis, Anthony
dc.contributor.authorScherer, Steven S.
dc.date.accessioned2020-01-13T15:16:44Z
dc.date.availableWITHHELD_12_MONTHS
dc.date.available2020-01-13T15:16:44Z
dc.date.issued2019-12
dc.identifier.citationLee, Diana C.; Meyer‐schuman, Rebecca ; Bacon, Chelsea; Shy, Michael E.; Antonellis, Anthony; Scherer, Steven S. (2019). "A recurrent GARS mutation causes distal hereditary motor neuropathy." Journal of the Peripheral Nervous System 24(4): 320-323.
dc.identifier.issn1085-9489
dc.identifier.issn1529-8027
dc.identifier.urihttps://hdl.handle.net/2027.42/153067
dc.description.abstractWe found a p.Gly327Arg mutation in GARS in two unrelated women, both of whom had a similar phenotype â 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.
dc.publisherWiley Periodicals, Inc.
dc.subject.otherHMN
dc.subject.otherCMT
dc.subject.otheraminoacyl transferase
dc.subject.otherCharcotâ Marieâ Tooth disease
dc.titleA recurrent GARS mutation causes distal hereditary motor neuropathy
dc.typeArticle
dc.rights.robotsIndexNoFollow
dc.subject.hlbsecondlevelNeurosciences
dc.subject.hlbtoplevelHealth Sciences
dc.description.peerreviewedPeer Reviewed
dc.description.bitstreamurlhttps://deepblue.lib.umich.edu/bitstream/2027.42/153067/1/jns12353_am.pdf
dc.description.bitstreamurlhttps://deepblue.lib.umich.edu/bitstream/2027.42/153067/2/jns12353.pdf
dc.identifier.doi10.1111/jns.12353
dc.identifier.sourceJournal of the Peripheral Nervous System
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dc.owningcollnameInterdisciplinary and Peer-Reviewed


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