Results 261 to 270 of about 66,092 (301)

Tissue specificity in cytochrome c oxidase deficient myopathy

Journal of the Neurological Sciences, 1989
Biopsied muscles were treated in 2 ways to demonstrate cytochrome c oxidase (CCO) activity on electron microscopy: (1) one to several muscle fibers were teased off the biopsy in buffer solution after glutaraldehyde fixation, (2) 20-30-microns thick cryostat sections were placed on precooled glass slides and fixed in glutaraldehyde solution at room ...
I, Nonaka, Y, Koga, E, Ohtaki, M, Yamamoto   +3 more
openaire   +2 more sources

Infantile cytochrome c oxidase deficiency with neonatal death

Pediatric Neurology, 1989
A newborn male presented with severe respiratory insufficiency, generalized muscle weakness, and lactic acidemia. Immediately after admission, he was placed on a respirator because of respiratory arrest. He deteriorated rapidly and died 75 hours after birth.
T, Takayanagi, M, Inoue, K, Tomimasu, C, Shimomura, T, Matsuzaka, Y, Tsuji, I, Nonaka   +6 more
openaire   +2 more sources

Cytochromec oxidase: Organ-specific isoenzymes and deficiencies

Journal of Inherited Metabolic Disease, 1988
Ever since the first report of Luft et al. (1962), considerable information has become available on inherited metabolic diseases originating from defects in mitochondria. Apart from defects in the import of substrates, in the carboxylic acid cycle, and in fatty acid oxidation, many dysfunctions have been described in the mitochondrial respiratory chain
Sinjorgo, K. M., Hakvoort, T. B., Muijsers, A. O., Schram, A. W., Tager, J. M.   +4 more
openaire   +2 more sources

Chronic Pancreatitis in Muscular Cytochrome c Oxidase Deficiency

Journal of Pediatric Gastroenterology and Nutrition, 1990
Chronic pancreatitis is described in a 10‐year‐old boy with mitochondrial myopathy due to cytochrome c oxidase (complex IV) deficiency. There have been few reports of chronic pancreatitis associated with congenital metabolic diseases. Marked pancreatic calcifications and pseudocysts of the pancreatic head and tail were demonstrated by computed ...
S, Kato, S, Miyabayashi, R, Ohi, H, Nakagawa, J, Abe, K, Yamamoto, S, Watanabe, K, Tada   +7 more
openaire   +2 more sources

The Many Clinical Faces of Cytochrome c Oxidase Deficiency

2012
Cytochrome c oxidase (COX) catalyzes the last step in respiration, transferring electrons from cytochrome c to molecular oxygen and coupling electron transfer with proton translocation from the mitochondrial matrix to the intermembrane space. COX is composed of 13 subunits, three larger catalytic subunits encoded by mitochondrial DNA (mtDNA) and ten ...
Salvatore, DiMauro, Kurenai, Tanji, Eric A, Schon   +2 more
openaire   +2 more sources

Mutation Screening in Patients With Isolated Cytochrome c Oxidase Deficiency

Pediatric Research, 2003
Cytochrome c oxidase (COX) deficiency has been associated with a variety of clinical conditions and can be due to mutations in nuclear or mitochondrial genes. Despite recent progress in our understanding of the molecular bases of COX deficiency, the genetic defect remains elusive in many cases.
SACCONI S, SALVIATI, LEONARDO, SUE CM, SHANSKE S, DAVIDSON MM, BONILLA E, NAINI AB, DE VIVO DC, DIMAURO S.   +8 more
openaire   +3 more sources

Benign reversible muscle cytochrome c oxidase deficiency

Neurology, 1987
A 6-week-old boy had generalized weakness, requiring assisted ventilation, and lactic acidosis. At 6 months, the lactic acidosis resolved, and the patient started to improve; assisted ventilation was discontinued at 15 months. Muscle biopsies at 4 and 11 months showed accumulation of mitochondria, lipid, and glycogen; cytochrome c oxidase (COX ...
Zeviani M., Peterson P., Servidei S., Bonilla E., DiMauro S.   +4 more
openaire   +3 more sources

Human Cytochrome c Oxidase: Structure, Function, and Deficiency

Journal of Bioenergetics and Biomembranes, 1997
As the terminal component of the mitochondrial respiratory chain, cytochrome c oxidase plays a vital role in cellular energy transformation. Human cytochrome c oxidase is composed of 13 subunits. The three major subunits form the catalytic core and are encoded by mitochondrial DNA (mtDNA). The remaining subunits are nuclear-encoded.
openaire   +2 more sources

Cytochrome C oxidase deficiency in two siblings with leigh encephalomyelopathy

Brain and Development, 1984
Two siblings with cytochrome c oxidase deficiency are described. One of them died of subacute necrotizing encephalomyelopathy which was proven by autopsy. The other was also suspected of having Leigh encephalomyelopathy by the findings on brain CT scans.
S, Miyabayashi, K, Narisawa, K, Iinuma, K, Tada, K, Sakai, K, Kobayashi, Y, Kobayashi, S, Morinaga   +7 more
openaire   +2 more sources

Mitochondrial encephalomyopathy and partial cytochrome c oxidase deficiency.

Neurology, 1987
A 52-year-old man had slowly progressive weakness and wasting of limb-muscles, sensorineural hearing loss, and complex partial seizures. CT showed cerebral atrophy, but he was not demented. Muscle biopsy showed ragged-red fibers and decreased histochemical stain for cytochrome c oxidase.
Servidei S., Lazaro R. P., Bonilla E., Barron K. D., Zeviani M., DiMauro S.   +5 more
openaire   +2 more sources