A novel nonsense variant in MT-COX3 causes MELAS syndrome

Adult-onset Leigh syndrome linked to the novel stop codon mutation m.6579G>A in MT-CO1

(2019) Olivia V. Poole et al.   MITOCHONDRION

Mitochondrial cytochrome c oxidase biogenesis: Recent developments

(2018) Alba Timón-Gómez et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Respiratory chain supercomplexes: Structures, function and biogenesis

(2018) Teresa Lobo-Jarne et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Mitochondrial complex IV deficiency caused by a novel frameshift variant in MT-CO2 associated with myopathy and perturbed acylcarnitine profile

(2018) Sara Roos et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mitochondrial cytochrome c oxidase deficiency

(2016) M. Rak et al.   CLINICAL SCIENCE

The genetics and pathology of mitochondrial disease

(2016) Charlotte L Alston et al.   JOURNAL OF PATHOLOGY

Mechanism of super-assembly of respiratory complexes III and IV

(2016) Sara Cogliati et al.   NATURE

COX7A2L Is a Mitochondrial Complex III Binding Protein that Stabilizes the III2+IV Supercomplex without Affecting Respirasome Formation

(2016) Rafael Pérez-Pérez et al.   Cell Reports

A novel mutation MT-COIII m.9267G>C and MT-COI m.5913G>A mutation in mitochondrial genes in a Tunisian family with maternally inherited diabetes and deafness (MIDD) associated with sever nephropathy

(2015) Mouna Tabebi et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Single muscle fiber proteomics reveals unexpected mitochondrial specialization

(2015) M. Murgia et al.   EMBO REPORTS

The subunit composition and function of mammalian cytochrome c oxidase

(2015) Bernhard Kadenbach et al.   MITOCHONDRION

Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?

(2014) Sara Seneca et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene

(2014) François-Guillaume Debray et al.   MITOCHONDRION

A novel MT-CO2 m.8249G > A pathogenic variation and the MT-TW m.5521G > A mutation in patients with mitochondrial myopathy

(2013) Emna Mkaouar-Rebai et al.   Mitochondrial DNA

Molecular-Clinical Correlation in a Family With a Novel Heteroplasmic Leigh Syndrome Missense Mutation in the Mitochondrial Cytochrome c Oxidase III Gene

(2010) Emna Mkaouar-Rebai et al.   JOURNAL OF CHILD NEUROLOGY

Novel single base pair COX III subunit deletion of mitochondrial DNA associated with rhabdomyolysis

(2010) Rosetta Marotta et al.   JOURNAL OF CLINICAL NEUROSCIENCE

Two novel cosegregating mutations in tRNAMet and COX III, in a patient with exercise intolerance and autoimmune polyendocrinopathy

(2009) B. Bortot et al.   MITOCHONDRION

Identification of novel mutations in five patients with mitochondrial encephalomyopathy

(2008) Lucia Valente et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

A MELAS syndrome family harboring two mutations in mitochondrial genome

(2008) Byung-Ok Choi et al.   EXPERIMENTAL AND MOLECULAR MEDICINE