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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.

Original publication

DOI

10.1212/01.wnl.0000242619.52335.bc

Type

Journal article

Journal

Neurology

Publication Date

14/11/2006

Volume

67

Pages

1710 - 1712

Keywords

Adult, Aged, 80 and over, Anticodon, Axons, Binding Sites, Charcot-Marie-Tooth Disease, Child, Cohort Studies, DNA Mutational Analysis, Female, Genetic Predisposition to Disease, Genetic Testing, Glycine-tRNA Ligase, Humans, Male, Motor Neurons, Muscle, Skeletal, Mutation, Protein Biosynthesis, Protein Structure, Tertiary, Spinal Muscular Atrophies of Childhood, Wallerian Degeneration