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Article

The coexistence of dynamin 2 mutation and multiple mitochondrial DNA (mtDNA) deletions in the background of severe cardiomyopathy and centronuclear myopathy.

Clinical neuropathology - 1 Jan 2000

Gal Aniko, Inczedy-Farkas Gabriella, Pal Endre, Remenyi Viktoria, Bereznai Benjamin, Geller Laszlo, Szelid Zsolt, Merkely Bela, Molnar Maria Judit

Abstract excerpt

Dynamin2 (DNM2) gene mutations may result in Charcot-Marie-Tooth disease and centronuclear myopathy. Here, we present a patient suffering from cardiomyopathy and centronuclear myopathy with repetitive discharges and mild axonal neuropathy due to DNM2 mutation. Detailed cardiological and neurological examinations, electrophysiological tests, muscle biopsy, and molecular genetic analysis were performed. The patient...

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Source

Identifiers

PMID: 25492887
DOI: 10.5414/NP300789

Genes

DNM2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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