Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation.

Neuromuscular disorders : NMD - 1 Jan 2010

Jungbluth Heinz, Cullup Tom, Lillis Suzanne, Zhou Haiyan, Abbs Stephen, Sewry Caroline, Muntoni Francesco

Abstract excerpt

Dynamin 2 (DNM2)-related dominant centronuclear myopathy is usually a mild disorder, but more severe variants have been associated with mutations affecting the pleckstrin homology (PH) domain of the protein, mainly implicated in different forms of Charcot-Marie-Tooth Disease (CMT). Whilst DNM2-related CMT may feature non-neurological findings including cataracts, this has not been reported in DNM2-related...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Substitution
Share to Cataract

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Disease Progression

Share to Dynamin II

Share to Fatal Outcome

Share to Infant, Newborn

Share to Muscle, Skeletal

Share to Myopathies, Structural, Congenital

Source

Identifiers

PMID: 19932620
DOI: 10.1016/j.nmd.2009.10.005

Genes

DNM2

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation.PMID 19932620Read ↗

A novel mutation in the dynamin 2 gene in a Charcot-Marie-Tooth type 2 patient: clinical and pathological findings.Semantic proximity Read ↗

A novel mutation in the DNM2 gene impairs dynamin 2 localization in skeletal muscle of a patient with late onset centronuclear myopathy.Semantic proximity Read ↗

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.Semantic proximity Read ↗

Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy.Semantic proximity Read ↗

Dynamin 2-related centronuclear myopathy: clinical, histological and genetic aspects of further patients and review of the literature.Semantic proximity Read ↗

Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy.Semantic proximity Read ↗

Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort.Semantic proximity Read ↗

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

Phenotype variability and histopathological findings in centronuclear myopathy due to DNM2 mutations.Semantic proximity Read ↗

A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation.Semantic proximity Read ↗

Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset.Semantic proximity Read ↗

[The dynamin-2-gene related centronuclear myopathy].Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.