Figure 2.

Clinical features of the patients from family 1. The proband, II-1, at age 46 years, exhibited marked lower leg amyotrophy (A), and incipient hand wasting involving first dorsal interossei and thenar musculature (C and E). The affected sibling II-2, at age 38 years, shows a more pronounced phenotype, with marked lower leg amyotrophy (B) and advanced wasting of hand musculature with clawing deformity (D, C, and F). Note the absence of proximal lower-limb amyotrophy in both patients (A and B).