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Article

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

Prenatal diagnosis - 1 Jul 2017

Meier Nicole, Bruder Elisabeth, Filges Isabel

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Topics

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Share to Fetal Death
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Share to Hydrops Fetalis
Share to Muscle Development

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscle, Skeletal

Share to Muscle, Smooth

Share to RNA Splice Sites

Share to Ryanodine Receptor Calcium Release Channel

Source

Identifiers

PMID: 28543167
DOI: 10.1002/pd.5073

Genes

RYR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel homozygous splice-site mutation in RYR1 causes fetal hydrops and affects skeletal and smooth muscle development.PMID 28543167Read ↗

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

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

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

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

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

Variable myopathic presentation in a single family with novel skeletal RYR1 mutation.Semantic proximity Read ↗

A novel, patient-derived RyR1 mutation impairs muscle function and calcium homeostasis in miceSemantic proximity Read ↗

PRRX1 is mutated in a fetus with agnathia-otocephaly.Semantic proximity Read ↗

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

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

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