Pedigree of a family with HFM; localization of PCFT mutations. (A) Pedigree of the family of patient P5. The black color indicates the c.1126C > T mutation, and the gray color indicates the c.954C > G mutation. (B) The genomic organization of the PCFT gene and the location of mutations detected in patients with HFM. (C) The location of amino acid substitutions (●) associated with mutations in PCFT gene in a topological structure predicted by online databases (ExPASy Proteomics Tools¹⁰  and Transport Classification Database¹¹ ).