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Article

A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease.

American journal of human genetics - 1 Jan 2010

Latour Philippe, Thauvin-Robinet Christel, Baudelet-Méry Chantal, Soichot Pierre, Cusin Veronica, Faivre Laurence, Locatelli Marie-Claire, Mayençon Martine, Sarcey Annie, Broussolle Emmanuel, Camu William, David Albert, Rousson Robert

Abstract excerpt

Charcot-Marie-Tooth disease (CMT) is the most common cause of inherited peripheral neuropathy, with an estimated frequency of 1/2500. We studied a large family with 17 patients affected by the axonal form of CMT (CMT2). Analysis of the 15 genes or loci known to date was negative. Genome-wide genotyping identified a CMT2 locus in 16q21-q23 between D16S3050 and D16S3106. The maximum two-point LOD score was 4.77 at...

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PMID: 20045102
DOI: 10.1016/j.ajhg.2009.12.005
PMCID: PMC2801750

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