Genotype/phenotype correlation in affected individuals of a family with a deletion of the entire coding sequence of the connexin 32 gene.

doi:10.1007/s004390050812

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Article

Genotype/phenotype correlation in affected individuals of a family with a deletion of the entire coding sequence of the connexin 32 gene.

Human genetics - 1 Aug 1998

Ainsworth P J, Bolton C F, Murphy B C, Stuart J A, Hahn A F

Abstract excerpt

X-linked Charcot-Marie-Tooth disease (CMTX) is a peripheral nerve disorder that has been linked to mutations in the connexin 32 gene (Cx32). These mutations have been shown to be genetically heterogeneous, though recurrences of specific mutations in apparently unrelated families have been seen. T...

Topics

Aged
Charcot-Marie-Tooth Disease
Connexins
Gene Deletion
Genotype
Humans
Karyotyping
Male
Pedigree
Phenotype
Polymorphism, Genetic
Gap Junction beta-1 Protein

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