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

Respiratory features of centronuclear myopathy in the Netherlands.

Neuromuscular disorders : NMD - 1 Jul 2023

Bouma Sietse, Cobben Nicolle, Bouman Karlijn, Gaytant Michael, van de Biggelaar Ries, van Doorn Jeroen, Reumers Stacha F I, Voet Nicoline Bm, Doorduin Jonne, Erasmus Corrie E, Kamsteeg Erik-Jan, Jungbluth Heinz, Wijkstra Peter, Voermans Nicol C

Abstract excerpt

Centronuclear myopathy (CNM) is a heterogeneous group of muscle disorders primarily characterized by muscle weakness and variable degrees of respiratory dysfunction caused by mutations in MTM1, DNM2, RYR1, TTN and BIN1. X-linked myotubular myopathy has been the focus of recent natural history studies and clinical trials. Data on respiratory function for other genotypes is limited. To better understand the...

Read the complete abstract on PubMed

Topics

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

Share to Dynamin II
Share to Muscle, Skeletal

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

Share to Mutation

Share to Myopathies, Structural, Congenital

Share to Netherlands

Share to Respiration Disorders

Source

Identifiers

PMID: 37364426
DOI: 10.1016/j.nmd.2023.06.003

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

Respiratory features of centronuclear myopathy in the Netherlands.PMID 37364426Read ↗

Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands.Semantic proximity Read ↗

Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.Semantic proximity Read ↗

Centronuclear (myotubular) myopathySemantic proximity Read ↗

Severe phenotype of a patient with autosomal recessive centronuclear myopathy due to a BIN1 mutation.Semantic proximity Read ↗

Mutational and clinical spectrum of centronuclear myopathy in 9 cases and a literature review of Chinese patients.Semantic proximity Read ↗

The myotubular and centronuclear myopathy patient registry: a multifunctional tool for translational research.Semantic proximity Read ↗

Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutationSemantic proximity Read ↗

Troponin-T type 1 (TNNT1)-related nemaline myopathy: unique respiratory phenotype and muscle pathology findings.Semantic proximity Read ↗

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

RYR1 mutations are a common cause of congenital myopathies with central nuclei.Semantic proximity Read ↗

Centronuclear myopathies: a widening concept.Semantic proximity Read ↗

Evidence of diaphragmatic dysfunction with severe alveolar hypoventilation syndrome in mitochondrial respiratory chain deficiency.Semantic proximity Read ↗

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