The form of Charcot-Marie-Tooth (CMT) neuropathy that maps to Xql3 is X-linked dominant, or X-linked intermediate. Heterozygous females are more mildly affected than hemizygous males. It has been known that this type of CMT is caused by mutations of connexin32 (Cx32) gene. A typical X-linked recessive Charcot-Marie-Tooth Chinese family was analyzed with single strand conformation polymorphism method. A Cx32 gene point mutation, ArglSGln, in exon 2 was identified in all affected family members, suggesting that this mutation is responsible for the CMT incidence of this family. The form of Charcot-Marie-Tooth (CMT) neuropathy that maps to Xql3 is X-linked dominant, or X-linked intermediate. Heterozygous females are more mildly affected than hemizygous males. It has been known that this type of CMT is caused by mutations of connexin32 (Cx32) gene. A typical X-linked recessive Charcot-Marie-Tooth Chinese family was analyzed with single strand conformation polymorphism method. A Cx32 gene mutation, ArglSGln, in exon 2 was identified in all affected family members, suggesting that this mutation is responsible for the CMT incidence of this family.