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Neurology. 2006 Nov 14;67(9):1710-2.

Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene.

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  • 1Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK.

Erratum in

  • Neurology. 2007 Feb 27;68(9):711.

Abstract

We screened 100 patients with inherited and sporadic lower motor neuron degeneration and identified three novel missense mutations in the glycyl-tRNA synthetase (GARS) gene. One mutation was in the anticodon binding domain and associated with onset in early childhood and predominant involvement of the lower limbs, thus extending the phenotype associated with GARS mutations.

PMID:
17101916
[PubMed - indexed for MEDLINE]
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