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Article

Clinical and cellular characterization of two novel MPZ mutations, p.I135M and p.Q187PfsX63.

Clinical neurology and neurosurgery - 1 Feb 2012

Lin Kon-Ping, Soong Bing-Wen, Chang Ming-Hong, Chen Wei-Ta, Lin Jer-Li, Lee Wei-Ju, Lee Yi-Chung

Abstract excerpt

OBJECTIVES: We report the clinical and cellular phenotypes of two novel MPZ mutations associated with CMT1B. METHODS: The two families were evaluated clinically, electrophysiologically, and genetically. The wild-type and mutant P(0) fused with fluorescent proteins were expressed in vitro to monitor their intracellular trafficking. Adhesion assay was also performed to evaluate the adhesiveness of cells. RESULTS:...

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Source

Identifiers

PMID: 22018721
DOI: 10.1016/j.clineuro.2011.09.015

Genes

MPZ

Variants

Provenance

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