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Infantile onset CMT2D/dSMA V in monozygotic twins due to a mutation in the anticodon‐binding domain of GARS
Author(s) -
Eskuri Jamie M.,
Stanley Christine M.,
Moore Steven A.,
Mathews Katherine D.
Publication year - 2012
Publication title -
journal of the peripheral nervous system
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1
H-Index - 67
eISSN - 1529-8027
pISSN - 1085-9489
DOI - 10.1111/j.1529-8027.2012.00370.x
Subject(s) - mutation , genetics , phenotype , atrophy , weakness , spinal muscular atrophy , transfer rna , biology , allele , gene , anatomy , rna
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 .