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

Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset.

Neuromuscular disorders : NMD - 1 Jan 2010

Melberg Atle, Kretz Christine, Kalimo Hannu, Wallgren-Pettersson Carina, Toussaint Anne, Böhm Johann, Stålberg Erik, Laporte Jocelyn

Abstract excerpt

We report a family with autosomal dominant centronuclear (myotubular) myopathy caused by a novel mutation, p.A618D, in dynamin 2 (DNM2). The 64-year-old mother and 26-year-old daughter had neonatal onset with hypotonia and weak suckling, followed by improvement, then slowly progressive muscle weakness and respiratory restriction. Muscle biopsy showed radial sarcoplasmic strands around the frequent central nuclei....

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset
Share to Amino Acid Substitution

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Disease Progression

Share to Dynamin II

Share to Family

Share to Muscle, Skeletal

Share to Myopathies, Structural, Congenital

Share to Sweden

Source

Identifiers

PMID: 19932619
DOI: 10.1016/j.nmd.2009.10.006

Genes

DNM2

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset.PMID 19932619Read ↗

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

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

Clinical, Electrophysiology, and Pathology Features of Dynamin Centronuclear Myopathy: A Case Report and Review of Literature.Semantic proximity Read ↗

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

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

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

Clinical, pathological and genetic characteristics of autosomal dominant inherited dynamin 2 centronuclear myopathy.Semantic proximity Read ↗

Clinicopathological features of centronuclear myopathy in Japanese populations harboring mutations in dynamin 2.Semantic proximity Read ↗

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

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

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

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