Kochanski, A

Somatic mosaicism in Charcot-Marie-Tooth type X disease. [electronic resource] - Neurology Jan 2004 - 336-7 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1526-632X

10.1212/01.wnl.0000103441.52563.02 doi


Adolescent
Adult
Aged
Amino Acid Substitution
Base Sequence
Charcot-Marie-Tooth Disease--genetics
Codon--genetics
Connexins--genetics
DNA Mutational Analysis
Female
Genetic Diseases, X-Linked--genetics
Humans
Male
Middle Aged
Molecular Sequence Data
Mosaicism
Mutation, Missense
Gap Junction beta-1 Protein