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

Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations.

Archives of neurology - 1 Sept 2011

Klein Andrea, Jungbluth Heinz, Clement Emma, Lillis Suzanne, Abbs Stephen, Munot Pinki, Pane Marika, Wraige Elizabeth, Schara Ulrike, Straub Volker, Mercuri Eugenio, Muntoni Francesco

Abstract excerpt

OBJECTIVES: To establish the consistency of the previously reported pattern of muscle involvement in a large cohort of patients with molecularly defined ryanodine receptor type 1 (RYR1)-related myopathies, to identify possible additional patterns, and to compare magnetic resonance imaging (MRI) findings with clinical and genetic findings. DESIGN: Blinded analysis of muscle MRI patterns of patients with congenital...

Read the complete abstract on PubMed

Topics

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

Share to Genes, Dominant
Share to Genes, Recessive

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Magnetic Resonance Imaging

Share to Muscle, Skeletal

Share to Myopathies, Structural, Congenital

Share to Predictive Value of Tests

Share to Ryanodine Receptor Calcium Release Channel

Share to Single-Blind Method

Source

Identifiers

PMID: 21911697
DOI: 10.1001/archneurol.2011.188

Genes

RYR1

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

Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations.PMID 21911697Read ↗

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

Muscle imaging in congenital myopathies.Semantic proximity Read ↗

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

Congenital myopathies.Semantic proximity Read ↗

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

Muscle imaging in dominant core myopathies linked or unlinked to the ryanodine receptor 1 gene.Semantic proximity Read ↗

Muscle Ultrasound Abnormalities in Individuals with RYR1-Related Malignant Hyperthermia Susceptibility.Semantic proximity Read ↗

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

Whole-Body Muscle MRI Characteristics of LAMA2 Gene Mutation Congenital Muscular Dystrophy ChildrenSemantic proximity Read ↗

Clinical approach to the diagnosis of congenital myopathies.Semantic proximity Read ↗

Muscle magnetic resonance imaging and histopathology in ACTA1-related congenital nemaline myopathy.Semantic proximity Read ↗

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

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