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

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

Orphanet journal of rare diseases - 8 Jan 2026

Yang Fan, Yao Ruen, Chang Guoying, Hu Jiayue, Feng Biyun, Wang Libo, Hu Feihan, Huang Yiguo, Wu Shuo, Yu Tingting, Ding Yu, Wang Xiumin

Abstract excerpt

BACKGROUND: Primary mitochondrial disorders (MDs) are genetically and clinically heterogeneous metabolic diseases caused by mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) mutations. Pediatric MDs pose diagnostic challenges due to variable onset, multisystem involvement, and complex genotype–phenotype correlations. METHODS: We retrospectively analyzed 69 children with suspected MDs at Shanghai Children’s Medical...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Child, Preschool

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

Share to DNA, Mitochondrial

Share to Infant

Share to Leigh Disease

Share to MELAS Syndrome

Share to Mitochondrial Diseases

Source

Open in PubMed Open full text

Identifiers

PMID: 41501912
DOI: 10.1186/s13023-025-04180-7
PMCID: PMC13094090

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 17 Oct 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

Clinical and genetic spectrum of pediatric mitochondrial disorders in China: insights from a 47-case genetically confirmed cohort.PMID 41501912Read ↗

Clinical and molecular characterization of pediatric mitochondrial disorders in south of China.Semantic proximity Read ↗

The clinical and genetic spectrum of mitochondrial diseases in China: A multicenter retrospective cross-sectional study.Semantic proximity Read ↗

Phenotype-Genotype Analysis Based on Molecular Classification in 135 Children With Mitochondrial Disease.Semantic proximity Read ↗

Phenotypes and genotypes of mitochondrial diseases with mtDNA variations in Chinese children: A multi-center study.Semantic proximity Read ↗

Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes.Semantic proximity Read ↗

Neuroimaging characteristics and genetic correlations in pediatric mitochondrial disorders: a cohort study from ChinaSemantic proximity Read ↗

Genotype-phenotype analysis of MT-ATP6-associated Leigh syndrome.Semantic proximity Read ↗

Phenotyping mitochondrial DNA-related diseases in childhood: A cohort study of 150 patients.Semantic proximity Read ↗

Genotype and Phenotype Characteristics of 58 Cases of Mitochondrial Epilepsy with Nuclear DNA Mutations in Children.Semantic proximity Read ↗

Neurologic disorders due to mitochondrial DNA mutations.Semantic proximity Read ↗

Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population.Semantic proximity Read ↗

Novel pathogenic mtDNA variants in Chinese children with neurological mitochondrial disorders.Semantic proximity Read ↗

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