CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis.

doi:10.1136/jnnp-2014-308826

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Article

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis.

Journal of neurology, neurosurgery, and psychiatry - 1 Aug 2015

Fridman V, Bundy B, Reilly M M, Pareyson D, Bacon C, Burns J, Day J, Feely S, Finkel R S, Grider T, Kirk C A, Herrmann D N, Laurá M, Li J, Lloyd T, Sumner C J, Muntoni F, Piscosquito G, Ramchandren S, Shy R, Siskind C E, Yum S W, Moroni I, Pagliano E, Zuchner S, Scherer S S, Shy M E

Abstract excerpt

BACKGROUND: The international Inherited Neuropathy Consortium (INC) was created with the goal of obtaining much needed natural history data for patients with Charcot-Marie-Tooth (CMT) disease. We analysed clinical and genetic data from patients in the INC to determine the distribution of CMT subtypes and the clinical impairment associated with them. METHODS: We analysed data from 1652 patients evaluated at 13 INC...

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PMID: 25430934
DOI: 10.1136/jnnp-2014-308826
PMCID: PMC4516002

Genes

PMP22
GJB1
MFN2
MPZ

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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