New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease.

doi:10.1212/wnl.45.10.1863

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Article

New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease.

Neurology - 1 Oct 1995

Bone L J, Dahl N, Lensch M W, Chance P F, Kelly T, Le Guern E, Magi S, Parry G, Shapiro H, Wang S

Abstract excerpt

Analysis of the connexin32 gene in patients with X-linked Charcot-Marie-Tooth disease shows mutations distributed throughout the molecule, with all domains affected except the fourth transmembrane domain and the distal carboxy terminus. Sequence analysis of DNA from 19 unrelated patients detected...

Topics

Amino Acid Sequence
Charcot-Marie-Tooth Disease
Connexins
Genetic Linkage
Humans
Molecular Sequence Data
Mutation
X Chromosome
Gap Junction beta-1 Protein

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