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Article

Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.

Annals of neurology - 1 Feb 2002

Boerkoel Cornelius F, Takashima Hiroshi, Garcia Carlos A, Olney Richard K, Johnson John, Berry Katherine, Russo Paul, Kennedy Shelley, Teebi Ahmad S, Scavina Mena, Williams Lowell L, Mancias Pedro, Butler Ian J, Krajewski Karen, Shy Michael, Lupski James R

Abstract excerpt

Charcot-Marie-Tooth disease (CMT) is a genetically heterogeneous disorder that has been associated with alterations of several proteins: peripheral myelin protein 22, myelin protein zero, connexin 32, early growth response factor 2, periaxin, myotubularin related protein 2, N-myc downstream regul...

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PMID: 11835375
DOI: 10.1002/ana.10089

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-11835375-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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