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Article

NEFL Pro22Arg mutation in Charcot-Marie-Tooth disease type 1.

Journal of human genetics - 1 Jan 2008

Shin Ji Soo, Chung Ki Wha, Cho Sun Young, Yun Jiyoung, Hwang Su Jin, Kang Sung Hee, Cho En Min, Kim Seung-Min, Choi Byung-Ok

Abstract excerpt

Charcot-Marie-Tooth disease (CMT) is classified into demyelinating neuropathy (CMT1) and axonal neuropathy (CMT2). Mutations in the neurofilament light chain polypeptide (NEFL) gene are present in CMT2E and CMT1F neuropathies. Two types of Pro22 mutations have been previously reported: Pro22Ser in CMT2E with giant axons, and Pro22Thr in CMT1F. In this study, we identified another Pro22 mutation, Pro22Arg, in a...

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Identifiers

PMID: 18758688
DOI: 10.1007/s10038-008-0333-8

Genes

NEFL

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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