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 diagnostic characteristics of complex III mitopathy due to novel BCS1L gene mutation in a Saudi patient.

BMC medical genomics - 19 Mar 2022

Al Qurashi Mansour, Mustafa Ahmed, Aga Syed Sameer, Ahmad Abrar, El-Farra Abdellatif, Shawli Aiman, Al Hindi Mohammed, Hasosah Mohammed

Abstract excerpt

BACKGROUND: Of the many types of mitochondrial diseases, mutations affecting BCS1L gene are regarded as chief cause of the defective mitochondrial complex-III, affecting normal mitochondrial functioning, and leading to wide variety of phenotypes. CASE PRESENTATION: In this case report we describe a novel genotype linked to a unique phenotype in a Saudi patient born of a consanguineous marriage. Detailed genetic...

Read the complete abstract on PubMed

Topics

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

Share to ATPases Associated with Diverse Cellular Activities
Share to Electron Transport Complex III

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mitochondrial Diseases

Share to Mutation

Share to Saudi Arabia

Source

Open in PubMed Open full text

Identifiers

PMID: 35305621
DOI: 10.1186/s12920-022-01210-2
PMCID: PMC8933996

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical and diagnostic characteristics of complex III mitopathy due to novel BCS1L gene mutation in a Saudi patient.PMID 35305621Read ↗

Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene.Semantic proximity Read ↗

Clinical spectrum of BCS1L Mitopathies and their underlying structural relationshipsSemantic proximity Read ↗

Pathogenic BCS1L Mutation Resulting in Hypertrophic Cardiomyopathy: A Unique Presentation of Nuclear Mitochondrial Disease.Semantic proximity Read ↗

Clinical and biochemical features associated with BCS1L mutation.Semantic proximity Read ↗

Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene.Semantic proximity Read ↗

Respiratory complex III dysfunction in humans and the use of yeast as a model organism to study mitochondrial myopathy and associated diseases.Semantic proximity Read ↗

Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient.Semantic proximity Read ↗

BCS1L-Associated Disease: 5'-UTR Variant Shifts the Phenotype Towards Axonal Neuropathy.Semantic proximity Read ↗

Modelling of BCS1L-related human mitochondrial disease in Drosophila melanogaster.Semantic proximity Read ↗

A Novel SLC25A4 Variant Causing Mitochondrial Dysfunction, Myopathy and Cardiomyopathy: A Functional and Molecular Characterization.Semantic proximity Read ↗

The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management.Semantic proximity Read ↗

A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype.Semantic proximity Read ↗

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