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

Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy.

Journal of neuromuscular diseases - 1 Jan 2024

Estévez-Arias Berta, Matalonga Leslie, Martorell Loreto, Codina Anna, Ortez Carlos, Carrera-García Laura, Expósito-Escudero Jessica, Yubero Delia, Hoenicka Janet, Jou Cristina, Palau Francesc, Beltran Sergi, Lochmüller Hanns, Töpf Ana, Nascimento Andrés, Natera-de Benito Daniel

Abstract excerpt

Congenital myopathies (CMs) are rare genetic disorders for which the diagnostic yield does not typically exceed 60% . We performed deep phenotyping, histopathological studies, clinical exome and trio genome sequencing and a phenotype-driven analysis of the genomic data, that led to the molecular diagnosis in a child with CM. We identified a heterozygous variant in RYR1 in the affected child, inherited from her...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to Genetic Association Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mosaicism

Share to Myotonia Congenita

Share to Phenotype

Share to Ryanodine Receptor Calcium Release Channel

Source

Open in PubMed Open full text

Identifiers

PMID: 38489196
DOI: 10.3233/JND-230216
PMCID: PMC11091619

Provenance

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

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy.PMID 38489196Read ↗

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 ↗

Congenital myopathies in adults: A diagnosis not to overlook.Semantic proximity Read ↗

[RYR1 myopathies in childhood: phenotype-genotype correlation and incidence].Semantic proximity Read ↗

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

Phenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India.Semantic proximity Read ↗

An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families.Semantic proximity Read ↗

Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations.Semantic proximity Read ↗

An integrated diagnosis strategy for congenital myopathies.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 ↗

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

Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.Semantic proximity Read ↗

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

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