Article
Clinical and pathological phenotype of the original family with Charcot-Marie-Tooth type 1B: a 20-year study.
Annals of neurology - 1 Apr 1997
Bird T D, Kraft G H, Lipe H P, Kenney K L, Sumi S M
Abstract excerpt
Charcot-Marie-Tooth type 1B is an uncommon form of hereditary motor and sensory neuropathy caused by mutations in the P(0) myelin protein gene on chromosome 1. We report here a 20-year observation of 13 members of the first family with Charcot-Marie-Tooth disease to demonstrate linkage to chromosome 1 and now known to have a C270A mutation in the P(0) gene altering the extracellular domain of the protein....
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