Skip to main content
. 2012 May 22;78(21):1644–1649. doi: 10.1212/WNL.0b013e3182574f8f

Figure 2. Clinical, radiologic, and genetic findings of the distal hereditary motor neuropathy family.

Figure 2

(A) A picture of patient 1 shows moderate pes cavus and toe clawing. (B) A picture of patient 2 shows pes cavus. (C and D) Axial T1-weighted images of the lower limbs in patient 1. (C) Axial image of the thighs, illustrating marked fatty replacement of the vastus lateralis muscle (arrows). (D) Axial image of the legs demonstrating complete fatty replacement of the gastrocnemius muscle (arrowheads). (E and F) Axial T1-weighted images of the lower limbs of a healthy control subject. (G) Chromatogram of the heterozygous c.2677G>A (p.D893N) mutation in exon 19 of AARS: left, 4 affected members; right, 4 unaffected relatives. (H) Comparison of AARS from different species. Arrowhead (▾) on top of the alignment indicates 893 amino acids.