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

Diagnostic yield of multi-gene panel for muscular dystrophies and other hereditary myopathies.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Jul 2022

Winckler Pablo Brea, Chwal Bruna Cristine, Dos Santos Marco Antonnio Rocha, Burguêz Daniela, Polese-Bonatto Marcia, Zanoteli Edmar, Siebert Marina, Vairo Filippo Pinto E, Chaves Márcia Lorena Fagundes, Saute Jonas Alex Morales

Abstract excerpt

Genetic testing is being considered the first-step in the investigation of hereditary myopathies. However, the performance of the different testing approaches is little known. The aims of the present study were to evaluate the diagnostic yield of a next-generation sequencing panel comprising 39 genes as the first-tier test for genetic myopathies diagnosis and to characterize clinical and molecular findings of...

Read the complete abstract on PubMed

Topics

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

Share to Contracture
Share to Cross-Sectional Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscular Diseases

Share to Muscular Dystrophies

Share to Muscular Dystrophies, Limb-Girdle

Share to Mutation

Source

Identifiers

PMID: 35175440
DOI: 10.1007/s10072-022-05934-y

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

Diagnostic yield of multi-gene panel for muscular dystrophies and other hereditary myopathies.PMID 35175440Read ↗

High diagnostic yield of targeted next-generation sequencing panel as a first-tier molecular test for the patients with myopathy or muscular dystrophy.Semantic proximity Read ↗

Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian SubcontinentSemantic proximity Read ↗

Clinico-genetic spectrum of limb-girdle muscular weakness in Austria: A multicentre cohort study.Semantic proximity Read ↗

Challenges and Advances in Molecular Diagnosis of Myopathies and Dystrophies in Perspective of Their Use in Developing Countries: Past, Present, and Future.Semantic proximity Read ↗

Guidelines for genetic testing of muscle and neuromuscular junction disorders.Semantic proximity Read ↗

Clinical applications of next‐generation sequencing‐based gene panel in patients with muscular dystrophy: Korean experienceSemantic proximity Read ↗

The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease.Semantic proximity Read ↗

A survey on mutation spectrum in Iranian patients with limb-girdle muscular dystrophies.Semantic proximity Read ↗

Molecular genetic testing and diagnosis strategies for dystrophinopathies in the era of next generation sequencingSemantic proximity Read ↗

Next-generation sequencing approaches for the diagnosis of skeletal muscle disordersSemantic proximity Read ↗

EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disordersSemantic proximity Read ↗

Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.Semantic proximity Read ↗

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