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Article

Phenotype variability and histopathological findings in centronuclear myopathy due to DNM2 mutations.

Journal of neurology - 1 Jun 2011

Hanisch F, Müller T, Dietz A, Bitoun M, Kress W, Weis J, Stoltenburg G, Zierz S

Abstract excerpt

Autosomal-dominant centronuclear myopathy (CNM) due to mutations in the dynamin 2 gene (DNM2) is a rare congenital myopathy histopathologically characterized by centrally located nuclei and a radial arrangement of sarcoplasmic strands around the central nuclei. A total of 1,582 consecutive muscle biopsies of adult patients (age ≥ 18 years) were screened for morphologically characteristic signs of CNM. Patients...

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Source

Identifiers

PMID: 21221624
DOI: 10.1007/s00415-010-5889-5

Genes

DNM2
BIN1
MTM1
RYR1

Provenance

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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