Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.

doi:10.1093/brain/awv241

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Article

Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.

Brain : a journal of neurology - 1 Nov 2015

Sanmaneechai Oranee, Feely Shawna, Scherer Steven S, Herrmann David N, Burns Joshua, Muntoni Francesco, Li Jun, Siskind Carly E, Day John W, Laura Matilde, Sumner Charlotte J, Lloyd Thomas E, Ramchandren Sindhu, Shy Rosemary R, Grider Tiffany, Bacon Chelsea, Finkel Richard S, Yum Sabrina W, Moroni Isabella, Piscosquito Giuseppe, Pareyson Davide, Reilly Mary M, Shy Michael E

Abstract excerpt

We aimed to characterize genotype-phenotype correlations and establish baseline clinical data for peripheral neuropathies caused by mutations in the myelin protein zero (MPZ) gene. MPZ mutations are the second leading cause of Charcot-Marie-Tooth disease type 1. Recent research makes clinical trials for patients with MPZ mutations a realistic possibility. However, the clinical severity varies with different...

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PMID: 26310628
DOI: 10.1093/brain/awv241
PMCID: PMC4643641

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