Fig. 1

A–F The clinical phenotype of the patients of family Lit2. At age 40, the index patient had distal atrophy and foot deformities (A), atrophy of interdigital muscles (B) and atrophy of thenar and hypothenar (C). At age 44, her affected brother had calf atrophy and foot deformities shown in frontal and lateral images of the feet (D–E) and atrophy of interdigital muscles (F). G Segregation and haplotype analyses of the novel c.299A>G (p.Glu100Gly) HINT1 variant in three Lithuanian families and one American patient. Sanger sequencing traces show the HINT1 sequence around the position of each variant in the patients. The minimal shared haplotype on chromosome 5 surrounding the novel variant is indicated in red. The known pathogenic c.110G>C (p.Arg37Pro) founder variant is colored in blue. Squares: males, circles: females, black: affected, white: unaffected. Black triangle indicates the index patient