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Article

Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity.

Neurogenetics - 1 Sept 1997

Pericak-Vance M A, Speer M C, Lennon F, West S G, Menold M M, Stajich J M, Wolpert C M, Slotterbeck B D, Saito M, Tim R W, Rozear M P, Middleton L T, Tsuji S, Vance J M

Abstract excerpt

The Charcot-Marie-Tooth (CMT) neuropathies are a group of disorders exhibiting neurophysical, pathological and genetic heterogeneity. CMT2 is a diagnostic subtype of this group of disorders characterized by variable expression and age-of-onset and normal or slightly diminished nerve conduction ve...

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Source

Identifiers

PMID: 10732809
DOI: 10.1007/s100480050013

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-10732809-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

Related research

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Click a neighbor to travelStep 1 · 11 closest

Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity.PMID 10732809Read ↗

Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity.Semantic proximity Read ↗

Genetic heterogeneity in Charcot-Marie-Tooth neuropathy type 2.Semantic proximity Read ↗

Charcot-Marie-Tooth disease (CMT): distinctive phenotypic and genotypic features in CMT type 2.Semantic proximity Read ↗

Deep geno- and phenotyping in two consanguineous families with CMT2 reveals HADHA as an unusual disease-causing gene and an intronic variant in GDAP1 as an unusual mutation.Semantic proximity Read ↗

Coincidence of two genetic forms of Charcot-Marie-Tooth disease in a single family.Semantic proximity Read ↗

Mild early onset axonal Charcot-Marie-Tooth disease not linked to other axonal Charcot-Marie-Tooth loci.Semantic proximity Read ↗

Absence of KIF1B mutation in a large Turkish CMT2A family suggests involvement of a second gene.Semantic proximity Read ↗

Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster.Semantic proximity Read ↗

MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families.Semantic proximity Read ↗

Hereditary motor and sensory neuropathy type 2C is genetically distinct from types 2B and 2D.Semantic proximity Read ↗

Localization of a locus for Charcot-Marie-Tooth neuropathy type Ia (CMT1A) to chromosome 17.Semantic proximity Read ↗

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