Article
A novel stop codon mutation in the PMP22 gene associated with a variable phenotype.
Neuromuscular disorders : NMD - 1 May 2004
Abe K T, Lino A M M, Hirata M T A, Pavanello R C M, Brotto M W I, Marchiori P E, Zatz M
Abstract excerpt
The most frequent inherited peripheral neuropathy is the peripheral myelin protein 22 (PMP22) gene related disease. Duplication, deletion, and point mutations in that gene are associated with phenotypic variability. Here we report a family carrying a novel mutation in the PMP22 gene (c. 327C>A), which results in a premature stop codon (Cys109stop). The family members who carry this mutation have a...
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