Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia

Mitochondrial cytochrome c oxidase deficiency

(2016) M. Rak et al.   CLINICAL SCIENCE

Loss of the smallest subunit of cytochromecoxidase, COX8A, causes Leigh-like syndrome and epilepsy

(2015) Kerstin Hallmann et al.   BRAIN

The subunit composition and function of mammalian cytochrome c oxidase

(2015) Bernhard Kadenbach et al.   MITOCHONDRION

A Mutation of COX6A1 Causes a Recessive Axonal or Mixed Form of Charcot-Marie-Tooth Disease

(2014) Gen Tamiya et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy

(2014) Ulla Najwa Abdulhag et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mitochondrial respiratory chain Complex I defects in Fanconi anemia complementation group A

(2013) Silvia Ravera et al.   BIOCHIMIE

Bone marrow cell transcripts from Fanconi anaemia patients revealin vivoalterations in mitochondrial, redox and DNA repair pathways

(2013) Giovanni Pagano et al.   EUROPEAN JOURNAL OF HAEMATOLOGY

From clinical description, to in vitro and animal studies, and backward to patients: Oxidative stress and mitochondrial dysfunction in Fanconi anemia

(2013) Giovanni Pagano et al.   FREE RADICAL BIOLOGY AND MEDICINE

Evidence of mitochondrial dysfunction and impaired ROS detoxifying machinery in Fanconi Anemia cells

(2013) U Kumari et al.   ONCOGENE

Mutations in COX7B Cause Microphthalmia with Linear Skin Lesions, an Unconventional Mitochondrial Disease

(2012) Alessia Indrieri et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exocrine Pancreatic Insufficiency, Dyserythropoeitic Anemia, and Calvarial Hyperostosis Are Caused by a Mutation in the COX4I2 Gene

(2009) Eyal Shteyer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cytochrome c oxidase deficiency: Patients and animal models

(2009) Francisca Diaz   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Severe Infantile Encephalomyopathy Caused by a Mutation in COX6B1, a Nucleus-Encoded Subunit of Cytochrome C Oxidase

(2008) Valeria Massa et al.   AMERICAN JOURNAL OF HUMAN GENETICS