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

COX6A2 variants cause a muscle‐specific cytochrome c oxidase deficiency

3 Jun 2019

Abstract excerpt

OBJECTIVE: Cytochrome c oxidase (COX) deficiency is a major mitochondrial respiratory chain defect that has vast genetic and phenotypic heterogeneity. This study aims to identify novel causative genes of COX deficiency with only striated muscle-specific symptoms. METHODS: Whole exome sequencing was performed in 2 unrelated individuals who were diagnosed with congenital myopathy and presented COX deficiency in...

Read the complete abstract on PubMed

Topics

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

Share to Cardiomyopathy and Myosin Studies
Share to Mitochondrial Function and Pathology
Share to Muscle Physiology and Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 31155743
DOI: 10.1002/ana.25517

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

COX6A2 variants cause a muscle‐specific cytochrome c oxidase deficiencyPMID 31155743Read ↗

The many clinical faces of cytochrome c oxidase deficiency.Semantic proximity Read ↗

A novel homozygous variant in COX5A causes an attenuated phenotype with failure to thrive, lactic acidosis, hypoglycemia, and short stature.Semantic proximity Read ↗

Biallelic variants in<i>COX18</i>cause a mitochondrial disorder primarily manifesting as peripheral neuropathySemantic proximity Read ↗

A novel homozygous pathogenic missense variant in COX6B1: Further delineation of the phenotype.Semantic proximity Read ↗

A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy.Semantic proximity Read ↗

The molecular anatomy of mitochondrial disease : identification and characterisation of novel nuclear-encoded mitochondrial disease genesSemantic proximity Read ↗

Cytochrome c oxidase deficiency.Semantic proximity Read ↗

COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood.Semantic proximity Read ↗

A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy.Semantic proximity Read ↗

Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene.Semantic proximity Read ↗

A COA8 homozygous mutation presenting as an intermediate CMT with leukopathy.Semantic proximity Read ↗

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