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Article

Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth disease.

Human mutation - 1 Nov 2012

Choi Byung-Ok, Koo Soo Kyung, Park Mi-Hyun, Rhee Hwanseok, Yang Song-Ju, Choi Kyoung-Gyu, Jung Sung-Chul, Kim Han Su, Hyun Young Se, Nakhro Khriezhanuo, Lee Hye Jin, Woo Hae-Mi, Chung Ki Wha

Abstract excerpt

Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neuropathies and is a genetically and clinically heterogeneous disorder with variable inheritance modes. As several molecules have been reported to have therapeutic effects on CMT, depending on the underlying genetic causes, exact genetic diagnostics have become very important for executing personalized therapy. Whole-exome sequencing has...

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PMID: 22730194
DOI: 10.1002/humu.22143

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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