Charcot-Marie-Tooth disease and pathways to molecular based therapies.

doi:10.1111/cge.12393

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Article

Charcot-Marie-Tooth disease and pathways to molecular based therapies.

Clinical genetics - 1 Nov 2014

Harel T, Lupski J R

Abstract excerpt

The discovery in 1991 that chromosome 17p12 duplication is associated with Charcot-Marie-Tooth (CMT) disease marked the beginning of an era of molecular insight into this disorder, which encompasses the peripheral motor and sensory neuropathies. A mere two decades later, over 40 subtypes of CMT have been molecularly defined and many have been extensively studied in vitro and in animal models, providing the...

Topics

Animals
Charcot-Marie-Tooth Disease
Genetic Testing
Humans
Molecular Diagnostic Techniques
Molecular Targeted Therapy
Phenotype

Source

Open in PubMed

Identifiers

PMID: 24697164
DOI: 10.1111/cge.12393

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