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Wiley, Journal of the Peripheral Nervous System, 1(17), p. 132-134, 2012

DOI: 10.1111/j.1529-8027.2012.00370.x

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Infantile onset CMT2D/dSMA V in monozygotic twins due to a mutation in the anticodon binding domain of GARS

Journal article published in 2012 by Jamie M. Eskuri, Christine M. Stanley, Steven A. Moore ORCID, Katherine D. Mathews
This paper is available in a repository.
This paper is available in a repository.

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Abstract

Mutations in the GARS gene cause CMT2D and dSMA V—allelic disorders characterized by predominantly distal upper extremity weakness and atrophy, typically beginning during the second decade of life. Here, 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.