Figure 1.

The novel glycyl-tRNA synthetase (GARS) mutation was detected in five individuals with distal hereditary motor neuropathy type V (dHMN-V). (A) Images of the hands of the patients with dHMN-V. II-1: The proband's aunt experienced weakness and muscle atrophy in the upper extremities bilaterally at 20 years of age. The lower extremities were less affected. II-5: The proband's father experienced weakness and muscle atrophy in the upper and lower extremities bilaterally at 16 years of age. III-2: The proband's cousin experienced muscle atrophy in the bilateral interosseous muscle at 6 years of age. III-7: The proband experienced weakness and muscle atrophy in the upper and lower extremities with pes cavus bilaterally at 10 years of age. III-8: The proband's young sister experienced weakness and muscle atrophy in the upper and lower extremities at 9 years of age. (B) The pedigree of the family with dHMN-V. Square = male; circle = female; diagonal black line = deceased individual; black filled symbol = clinically and electromyogram confirmed affected individual; empty symbol = clinically healthy relative; syringe symbol = blood sampled individual; asterisk: individual showing a GARS deleterious variant. (C) Chromatograms of the mutation sites confirmed by Sanger sequencing. Note that the five patients with dHMN-V had a novel homozygous mutation consisting of a guanine-to-thymine substitution at codon 383. Unaffected individuals had T/T, and the affected individuals with symptoms had the heterozygous mutation T/G at the corresponding codon. The red circle indicates codon 383.