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

Journal article

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.

Authors: James, P; Cader, M; Muntoni, F; Childs, A; Crow, Y

• Publication status: Published
• Journal: Neurology
• Volume: 67
• Issue: 9
• Pages: 1710-1712
• Publication date: 2006-11-01
• DOI: 10.1212/01.wnl.0000242619.52335.bc
• EISSN: 1526-632X
• ISSN: 0028-3878
• Language: English
• Keywords: Charcot-Marie-Tooth Disease; Protein Structure, Tertiary; Muscle, Skeletal; Mutation; Binding Sites; Female; Spinal Muscular Atrophies of Childhood; Genetic Testing; Adult; Motor Neurons; Male; Aged, 80 and over; Wallerian Degeneration; Child; Anticodon; DNA Mutational Analysis; Genetic Predisposition to Disease; Glycine-tRNA Ligase; Cohort Studies; Axons; Protein Biosynthesis; Humans