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Article

Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibers due to a DNM2 mutation.

Neuromuscular disorders : NMD - 1 Dec 2010

Liewluck Teerin, Lovell Tracy L, Bite Anna V, Engel Andrew G

Abstract excerpt

Dynamin 2 gene (DNM2) mutations result in an autosomal dominant centronuclear myopathy (CNM) and a Charcot-Marie-Tooth (CMT) neuropathy. DNM2-CMT but not DNM2-CNM patients were noted to have neutropenia. We here report a man with paravertebral muscles hypertrophy and mild neutropenia. His muscle biopsy was typical for CNM with additional "necklace" fibers. Sequencing of DNM2 revealed a known heterozygous...

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Source

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Identifiers

PMID: 20817456
DOI: 10.1016/j.nmd.2010.07.273
PMCID: PMC2991611

Genes

DNM2
MTM1

Variants

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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