Figure 2: Genetic map of 5p15.1 and genomic organization of ANKH. Figure 3: Cosegregation of ANKH mutations with the CMD phenotype. All eight families with mutations in ANKH are shown. We ...

Purpose: To determine if there is significant symptomatology in women with heterozygous α-galactosidase mutations. Methods: Data from medical records of the 44 heterozygous females followed at ...