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Article

A Novel Dynamin 2 Mutation Causing Dominant Intermediate Charcot-Marie-Tooth Neuropathy: Case Report.

Journal of investigative medicine high impact case reports - 1 Jan 2000

San Luis Carmela V, Schwartzlow Coreen, Nozaki Kenkichi, Ubogu Eroboghene E

Abstract excerpt

Dynamin 2 mutations are associated with Charcot-Marie-Tooth neuropathy. We report two siblings with a novel missense heterozygous point mutation (c.1609 G>A) in the highly conserved pleckstrin homology domain in exon 15 of Dynamin 2 presenting with progressive length-dependent sensorimotor polyneuropathy with mixed demyelinating and axonal features on electrodiagnostic studies. The previously unrecognized...

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Identifiers

PMID: 35993408
DOI: 10.1177/23247096221117801
PMCID: PMC9527530

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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