Journal article
Infantile onset CMT2D/dSMA V in monozygotic twins due to a mutation in the anticodon-binding domain of GARS
Journal of the peripheral nervous system, Vol.17(1), pp.132-134
03/2012
DOI: 10.1111/j.1529-8027.2012.00370.x
PMCID: PMC3572939
PMID: 22462675
Abstract
Mutations in the GARS gene cause Charcot-Marie-Tooth 2D and distal spinal muscular atrophy type V - allelic disorders characterized by predominantly distal upper extremity weakness and atrophy, typically beginning during the second decade of life. We report monozygotic twin girls with onset of weakness in infancy and a previously reported GARS mutation within the anticodon-binding domain. The severity and remarkable similarity in phenotypes of these girls and the reported case suggest that mutations within the anticodon-binding domain are more damaging to aminoacyl tRNA synthetase function than those within other domains of GARS.
Details
- Title: Subtitle
- Infantile onset CMT2D/dSMA V in monozygotic twins due to a mutation in the anticodon-binding domain of GARS
- Creators
- Jamie M Eskuri - The University of Iowa Carver College of Medicine, 200 Hawkins Drive, Iowa City, IA 52242, USAChristine M StanleySteven A MooreKatherine D Mathews
- Resource Type
- Journal article
- Publication Details
- Journal of the peripheral nervous system, Vol.17(1), pp.132-134
- DOI
- 10.1111/j.1529-8027.2012.00370.x
- PMID
- 22462675
- PMCID
- PMC3572939
- NLM abbreviation
- J Peripher Nerv Syst
- ISSN
- 1085-9489
- eISSN
- 1529-8027
- Publisher
- United States
- Grant note
- U54 NS053672 / NINDS NIH HHS
- Language
- English
- Date published
- 03/2012
- Academic Unit
- Neurology; Stead Family Department of Pediatrics; Pathology; Iowa Neuroscience Institute; Neurology (Pediatrics)
- Record Identifier
- 9984017584502771
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