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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 : JPNS - 1 Mar 2012

Eskuri Jamie M, Stanley Christine M, Moore Steven A, Mathews Katherine D

Abstract excerpt

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...

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Identifiers

PMID: 22462675
DOI: 10.1111/j.1529-8027.2012.00370.x
PMCID: PMC3572939

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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