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

Journal article published in 2006 by Pa A. James, Mz Z. Cader ORCID, F. Muntoni, Am-M. Childs, Yj J. Crow, K. Talbot, Cader M Muntoni F Childs A Crow YJ Talbot K. James P.
This paper was not found in any repository; the policy of its publisher is unknown or unclear.
This paper was not found in any repository; the policy of its publisher is unknown or unclear.

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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.