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

Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene.

Journal of neurology, neurosurgery, and psychiatry - 1 Oct 2014

Romero Norma B, Xie Ting, Malfatti Edoardo, Schaeffer Ursula, Böhm Johann, Wu Bin, Xu Fengping, Boucebci Samy, Mathis Stéphane, Neau Jean-Philippe, Monnier Nicole, Fardeau Michel, Laporte Jocelyn

Abstract excerpt

BACKGROUND: Autosomal dominant (AD) central core disease (CCD) is a congenital myopathy characterised by the presence of cores in the muscle fibres which correspond to broad areas of myofibrils disorganisation, Z-line streaming and lack of mitochondria. Heterozygous mutations in the RYR1 gene were observed in the large majority of AD-CCD families; however, this gene was excluded in some of AD-CCD families....

Read the complete abstract on PubMed

Topics

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

Share to Cardiac Myosins
Share to Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscle Fibers, Slow-Twitch

Share to Mutation, Missense

Share to Myopathy, Central Core

Share to Myosin Heavy Chains

Share to Pedigree

Share to Radiography

Source

Open in PubMed Open full text

Identifiers

PMID: 24828896
DOI: 10.1136/jnnp-2013-306754
PMCID: PMC4173876

Genes

MYH7
RYR1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene.PMID 24828896Read ↗

Central core disease.Semantic proximity Read ↗

Two families with MYH7 distal myopathy associated with cardiomyopathy and core formations.Semantic proximity Read ↗

A review of core myopathy: central core disease, multiminicore disease, dusty core disease, and core-rod myopathy.Semantic proximity Read ↗

Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement.Semantic proximity Read ↗

Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features--a case report.Semantic proximity Read ↗

Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores.Semantic proximity Read ↗

MYH7-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort.Semantic proximity Read ↗

Next generation sequencing reveals ryanodine receptor 1 mutations in a Chinese central core disease cohort.Semantic proximity Read ↗

Expanding the genetic landscape of Dusty Core Disease: new RYR1 variants in Italian patients.Semantic proximity Read ↗

Core myopathies.Semantic proximity Read ↗

Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesiaSemantic proximity Read ↗

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

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