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

Phenotypic Heterogeneity in Patients with Mutations in the Mitochondrial Complex I Assembly Gene NDUFAF5.

Movement disorders : official journal of the Movement Disorder Society - 1 Dec 2023

Chen Pin-Shiuan, Lee Ni-Chung, Sung Chieh-Ju, Liu Ya-Wen, Weng Wen-Chin, Fan Pi-Chuan, Lee Wang-Tso, Chien Yin-Hsiu, Wu Chao-Szu, Sung Yueh-Feng, Tsai Ming-Chen, Lee Yi-Chung, Hsueh Hsueh-Wen, Fan Sabrina Mai-Yi, Wu Meng-Chen, Li Hsun, Chen Huan-Yun, Lin Han-I, Ou-Yang Chih-Hsin, Hwuh Wuh-Liang, Lin Chin-Hsien

Abstract excerpt

BACKGROUND: Rare mutations in NADH:ubiquinone oxidoreductase complex assembly factor 5 (NDUFAF5) are linked to Leigh syndrome. OBJECTIVE: We aimed to describe clinical characteristics and functional findings in a patient cohort with NDUFAF5 mutations. METHODS: Patients with biallelic NDUFAF5 mutations were recruited from multi-centers in Taiwan. Clinical, laboratory, radiological, and follow-up features were...

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 About Contact Helena Bioinformatics

Share to Dystonic Disorders

Share to Leigh Disease

Share to Methyltransferases

Share to Mitochondrial Proteins

Share to Movement Disorders

Share to Young Adult

Source

Identifiers

PMID: 37752895
DOI: 10.1002/mds.29604

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phenotypic Heterogeneity in Patients with Mutations in the Mitochondrial Complex I Assembly Gene NDUFAF5.PMID 37752895Read ↗

Bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiency.Semantic proximity Read ↗

Case report of atypical Leigh syndrome in an adolescent male with novel biallelic variants in NDUFAF5 and review of the natural history of NDUFAF5-related disorders.Semantic proximity Read ↗

Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.Semantic proximity Read ↗

MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load.Semantic proximity Read ↗

Lack of mitochondrial complex I assembly factor NDUFAF2 results in a distinctive infantile-onset brainstem neurodegenerative disease with early lethality.Semantic proximity Read ↗

Leigh Syndrome: A Study of 209 Patients at the Beijing Children's Hospital.Semantic proximity Read ↗

Bi-allelic mutations in FASTKD5 are associated with cytochrome c oxidase deficiency and early- to late-onset Leigh syndrome.Semantic proximity Read ↗

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

A Leigh syndrome caused by compound heterozygous mutations on NDUFAF5 induce early infant death: A case report.Semantic proximity Read ↗

NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.Semantic proximity Read ↗

Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment options.Semantic proximity Read ↗

Compound heterozygous mutations of NDUFV1 identified in a child with mitochondrial complex I deficiency.Semantic proximity Read ↗

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