Family pedigree and clinical photography of affected family members. Family pedigree (A), with the arrow indicating the proband and filled symbols denoting affected individuals; squares are males and circles are females. In cases where the genotype was available, it is indicated under the corresponding symbol as WT/WT (wild-type/wild-type) or WT/M (wild-type/mutant). Still photographs showing forearm and intrinsic hand muscle amyotrophy in the proband (B) and a milder degree of forearm, hand and distal leg amyotrophy in the proband’s daughter (C).