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. 2019 Aug 20;6(9):1728–1738. doi: 10.1002/acn3.50868

Figure 1.

Figure 1

Family pedigrees and illustrations of distal limbs. (A) Family pedigree A shows two patients (arrow indicates the index patient II:2; black square indicates the other patient II:5). The genotype segregates with the phenotype in the family (+ indicates mutant allele; − indicates wild‐type allele). (B) Family pedigree B shows an additional patient II:2 (black circle). Genetic screening reveals a family co‐segregation (+ indicates mutant allele; − indicates wild‐type allele). (C) The patient II:2 of family A shows mild intrinsic muscle atrophy of feet and hands. (D) The patient II:5 of family A has wasting of the lower limbs and left hand. (E) The patient II:2 of family B displays wasting of distal lower limbs and pes cavus.