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

First genomic rearrangement of the RYR1 gene associated with an atypical presentation of lethal neonatal hypotonia.

Neuromuscular disorders : NMD - 1 Oct 2009

Monnier Nicole, Laquerrière Annie, Marret Stéphane, Goldenberg Alice, Marty Isabelle, Nivoche Yves, Lunardi Joël

Abstract excerpt

Neonatal hypotonia is frequently observed with a highly variable clinical presentation. Congenital myopathies that are classically characterized by the presence of structural changes of the muscle fibres such as cores, rods and aggregates have been reported to be occasionally associated with this...

Read the complete abstract on PubMed

Topics

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

Share to Blotting, Western
Share to Fatal Outcome
Share to Microscopy, Electron

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscle Hypotonia

Share to Muscles

Share to Muscular Diseases

Share to Ryanodine Receptor Calcium Release Channel

Share to Sequence Deletion

Source

Identifiers

PMID: 19734047
DOI: 10.1016/j.nmd.2009.07.007

Genes

RYR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19734047-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

First genomic rearrangement of the RYR1 gene associated with an atypical presentation of lethal neonatal hypotonia.PMID 19734047Read ↗

A novel RYR1 variant in an infant with a unique fetal presentation of central core disease.Semantic proximity Read ↗

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

A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease courseSemantic proximity Read ↗

Identification of a novel compound heterozygous mutation in RyR1 gene in an Indian family affected with congenital myopathySemantic proximity Read ↗

A novel large deletion in the RYR1 gene in a Belgian family with late-onset and recessive core myopathy.Semantic proximity Read ↗

Clinical RNA sequencing confirms compound heterozygous intronic variants in RYR1 in a patient with congenital myopathy, respiratory failure, neonatal brain hemorrhage, and d-transposition of the great arteries.Semantic proximity Read ↗

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

One case of congenital myopathy caused by new mutation of RYR1 gene and literature review.Semantic proximity Read ↗

Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.Semantic proximity Read ↗

Compound Heterozygous RYR1 Variants in a Patient with Severe Congenital Myopathy: Case Report and Comparison with Additional Cases of Recessive RYR1-Related Myopathy.Semantic proximity Read ↗

A novel homozygous splice-site mutation in RYR1 causes fetal hydrops and affects skeletal and smooth muscle development.Semantic proximity Read ↗

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

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