Fig. 1.
a Pedigrees of the families included in the study. DNA samples were collected from the individuals marked with an asterisk. Corresponding gentoypes are displayed for these individuals where Xm represents a mutated allele and X represents a wild-type allele. F7 II.3 is indicated as suffering from poliomyelitis and thus was not included in the study. b Haplotype analysis, showing the Haplotype A (Italian/Maltese haplotype) observed in Families F1–F2 and Haplotype B (French haplotype) observed in F6–F7 along with the corresponding age of the haplotypes. c A summary of the identified missense mutations in SMPX and their correlation with the observed phenotypes in F1–F9