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

Lethal multiple pterygium syndrome, the extreme end of the RYR1 spectrum.

BMC musculoskeletal disorders - 1 Mar 2016

Kariminejad Ariana, Ghaderi-Sohi Siavash, Hossein-Nejad Nedai Hamid, Varasteh Vahid, Moslemi Ali-Reza, Tajsharghi Homa

Abstract excerpt

BACKGROUND: Lethal multiple pterygium syndrome (LMPS, OMIM 253290), is a fatal disorder associated with anomalies of the skin, muscles and skeleton. It is characterised by prenatal growth failure with pterygium present in multiple areas and akinesia, leading to muscle weakness and severe arthrogryposis. Foetal hydrops with cystic hygroma develops in affected foetuses with LMPS. This study aimed to uncover the...

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 Fetal Death

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

Share to RYR1 gene

Share to Malignant Hyperthermia

Share to Mutation

Share to Ryanodine Receptor Calcium Release Channel

Share to Skin Abnormalities

Source

Open in PubMed Open full text

Identifiers

PMID: 26932181
DOI: 10.1186/s12891-016-0947-5
PMCID: PMC4774121

Genes

RYR1

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

Lethal multiple pterygium syndrome, the extreme end of the RYR1 spectrum.PMID 26932181Read ↗

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

Lethal multiple pterygium syndrome: A severe phenotype associated with a novel mutation in the nebulin gene.Semantic proximity Read ↗

Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndromeSemantic proximity Read ↗

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

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

Prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders: A reviewSemantic proximity Read ↗

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

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

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

Dihydropyridine receptor (DHPR, CACNA1S) congenital 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 ↗

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

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