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Article

A Novel Missense Mutation in Peripheral Myelin Protein-22 Causes Charcot-Marie-Tooth Disease.

Chinese medical journal - 5 Aug 2017

Li Li-Xi, Dong Hai-Lin, Xiao Bao-Guo, Wu Zhi-Ying

Abstract excerpt

BACKGROUND: Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy. A great number of causative genes have been described in CMT, and among them, the heterozygous duplication of peripheral myelin protein-22 (PMP22) is the major cause. Although the missense mutation in PMP22 is rarely reported, it has been demonstrated to be associated with CMT. This study described a novel missense...

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Identifiers

PMID: 28748849
DOI: 10.4103/0366-6999.211539
PMCID: PMC5547828

Genes

PMP22

Variants

Provenance

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