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

The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call.

Genes - 9 Oct 2021

Bellusci Marcello, Paredes-Fuentes Abraham J, Ruiz-Pesini Eduardo, Gómez Beatriz, Martín Miguel A, Montoya Julio, Artuch Rafael

Abstract excerpt

The frequency of mitochondrial diseases (MD) has been scarcely documented, and only a few studies have reported data in certain specific geographical areas. In this study, we arranged a nationwide call in Spain to obtain a global estimate of the number of cases. A total of 3274 cases from 49 Spanish provinces were reported by 39 centres. Excluding duplicated and unsolved cases, 2761 patients harbouring pathogenic...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to DNA, Mitochondrial
Share to High-Throughput Nucleotide Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mitochondrial Diseases

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 34680984
DOI: 10.3390/genes12101590
PMCID: PMC8535857

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call.PMID 34680984Read ↗

Mitochondrial Diseases: A Diagnostic Revolution.Semantic proximity Read ↗

Mitochondrial diseases in North AmericaSemantic proximity Read ↗

Clinical and Genetic Spectrum of Patients With Mitochondrial Disease in a Pediatric Egyptian Cohort: Novel Variants and Phenotypic Expansion.Semantic proximity Read ↗

Retrospective assessment of the most common mitochondrial DNA mutations in a large Hungarian cohort of suspect mitochondrial cases.Semantic proximity Read ↗

Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis.Semantic proximity Read ↗

Mitochondrial respiratory chain disorders in childhood: Insights into diagnosis and management in the new era of genomic medicineSemantic proximity Read ↗

The establishment of a molecular diagnostic platform for mitochondrial diseases: From conventional to next-generation sequencingSemantic proximity Read ↗

Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort.Semantic proximity Read ↗

Clinical and genetic spectrum of pediatric mitochondrial disorders in China: insights from a 47-case genetically confirmed cohort.Semantic proximity Read ↗

Genetics of mitochondrial diseases: Identifying mutations to help diagnosis.Semantic proximity Read ↗

The epidemiology of mitochondrial disorders--past, present and future.Semantic proximity Read ↗

Diagnosis and molecular basis of mitochondrial respiratory chain disorders: exome sequencing for disease gene identification.Semantic proximity Read ↗

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