Late onset axonal Charcot-Marie-Tooth phenotype caused by a novel myelin protein zero mutation.
other · Level V
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- Record sourced from PubMed, PMID 16543539.
- Also identified by PMC identifier 2077493.
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Abstract
A late onset axonal Charcot-Marie-Tooth phenotype is described, resulting from a novel mutation in the myelin protein zero (MPZ) gene. Comparative computer modelling of the three dimensional structure of the MPZ protein predicts that this mutation does not cause a significant structural change. The primary axonal disease process in these patients points to a function of MPZ in maintenance of the myelinated axons, apart from securing stability of the myelin layer.
Medical subject headings
- Axons
- Charcot-Marie-Tooth Disease
- Intracellular Signaling Peptides and Proteins
- Myelin P0 Protein
- Phosphoproteins