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

Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum.

Neurology - 23 Apr 2013

Bharucha-Goebel Diana Xerxes, Santi Mariarita, Medne Livija, Zukosky Kristen, Zukosky Kristin, Dastgir Jahannaz, Shieh Perry B, Winder Thomas, Tennekoon Gihan, Finkel Richard S, Dowling James J, Monnier Nicole, Bönnemann Carsten G

Abstract excerpt

OBJECTIVE: To report a series of 11 patients on the severe end of the spectrum of ryanodine receptor 1 (RYR1) gene-related myopathy, in order to expand the clinical, histologic, and genetic heterogeneity associated with this group of patients. METHODS: Eleven patients evaluated in the neonatal period with severe neonatal-onset RYR1-associated myopathy confirmed by genetic testing were ascertained. Clinical...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to RYR1 gene

Share to History, Ancient

Share to Infant, Newborn

Share to Mutation

Share to Myopathy, Central Core

Share to Ryanodine Receptor Calcium Release Channel

Source

Open in PubMed Open full text

Identifiers

PMID: 23553484
DOI: 10.1212/WNL.0b013e3182900380
PMCID: PMC3662324

Genes

RYR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum.PMID 23553484Read ↗

Ryanodine myopathies without central cores--clinical, histopathologic, and genetic description of three cases.Semantic proximity Read ↗

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies.Semantic proximity Read ↗

Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization.Semantic proximity Read ↗

Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations.Semantic proximity Read ↗

Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrumSemantic proximity Read ↗

Lethal multiple pterygium syndrome, the extreme end of the RYR1 spectrum.Semantic proximity Read ↗

Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients.Semantic proximity Read ↗

Correlation of phenotype with genotype and protein structure in RYR1-related disorders.Semantic proximity Read ↗

The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort.Semantic proximity Read ↗

RYR1-Related Myopathies: Clinical, Histopathologic and Genetic Heterogeneity Among 17 Patients from a Portuguese Tertiary Centre.Semantic proximity Read ↗

FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum.Semantic proximity Read ↗

Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature.Semantic proximity Read ↗

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