Fig. 2

Clinical phenotype. a–d Serial pictures of Case IV-4, and pictures of Case IV-11 taken at age 32 years e–i from the pedigree reported by Peeters et al. [10]. a At age 25, there is normal appearance of lower limbs; particularly note the absence of peroneal muscular atrophy and toe clawing. b Close-up picture of the sole of the feet showing midfoot hollowing and callosity over transverse arcus plantaris and external foot borders. c At age 43, note the appearance of lower-leg amyotrophy mainly involving peroneal musculature; in spite of this there was evidence of neither weakness of foot extensors/evertors nor difficulty in heel walking. d Close-up picture of the left foot showing wasting of extensor digitorum brevis muscle (arrows). e–g There is no evidence of lower-leg amyotrophy; note that even under load pes cavus and clawing of toes are visible e, g and h–i Close-up pictures of the feet showing marked pes cavus-varus deformity and toe clawing. Reproduced from Peeters et al. [10]