scholarly journals Exercise intolerance, lactic acidosis, and abnormal cardiopulmonary regulation in exercise associated with adult skeletal muscle cytochrome c oxidase deficiency.

1989 ◽  
Vol 84 (1) ◽  
pp. 155-161 ◽  
Author(s):  
R G Haller ◽  
S F Lewis ◽  
R W Estabrook ◽  
S DiMauro ◽  
S Servidei ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Cytochrome C ◽  
Lactic Acidosis ◽  
Cytochrome C Oxidase ◽  
Exercise Intolerance ◽  
Oxidase Deficiency ◽  
Adult Skeletal Muscle ◽  
Cytochrome C Oxidase Deficiency

scholarly journals The Lebanese Allele in the PET100 Gene: Report on Two New Families with Cytochrome c Oxidase Deficiency

2019 ◽  
Vol 08 (03) ◽  
pp. 172-178 ◽  
Author(s):  
Hicham Mansour ◽  
Sandra Sabbagh ◽  
Sami Bizzari ◽  
Stephany El-Hayek ◽  
Eliane Chouery ◽  
...  
Keyword(s):  
Cytochrome C ◽  
Lactic Acidosis ◽  
Developmental Delay ◽  
Cytochrome C Oxidase ◽  
Brain Magnetic Resonance Imaging ◽  
Global Developmental Delay ◽  
Mitochondrial Complex ◽  
Oxidase Deficiency ◽  
Complex Iv ◽  
Cytochrome C Oxidase Deficiency

AbstractCytochrome c oxidase deficiency is caused by mutations in any of at least 30 mitochondrial and nuclear genes involved in mitochondrial complex IV biogenesis and structure, including the recently identified PET100 gene. Here, we report two families, of which one is consanguineous, with two affected siblings each. In one family, the siblings presented with developmental delay, seizures, lactic acidosis, abnormal brain magnetic resonance imaging, and low muscle mitochondrial complex IV activity at 30%. In the other family, the two siblings, now deceased, had a history of global developmental delay, failure to thrive, muscular hypotonia, seizures, developmental regression, respiratory insufficiency, and lactic acidosis. By whole exome sequencing, a missense mutation in exon 1 of the PET100 gene (c.3G > C; [p.Met1?]) was identified in both families. A review of the clinical description and literature is discussed, highlighting the importance of this variant in the Lebanese population.

scholarly journals A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency

2014 ◽  
Vol 23 (7) ◽  
pp. 935-939 ◽  
Author(s):  
Monika Oláhová ◽  
Tobias B Haack ◽  
Charlotte L Alston ◽  
Jessica AC Houghton ◽  
Langping He ◽  
...  
Keyword(s):  
Cytochrome C ◽  
Lactic Acidosis ◽  
Cytochrome C Oxidase ◽  
Oxidase Deficiency ◽  
Cytochrome C Oxidase Deficiency
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