Nuclear DNA origin of cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence based on patient's-derived rho  transformants

1995 ◽  
Vol 4 (11) ◽  
pp. 2017-2023 ◽  
Author(s):  
V. Tiranti ◽  
M. Munaro ◽  
D. Sandona ◽  
E. Lamantea ◽  
M. Rimoldi ◽  
...  
Keyword(s):  
Cytochrome C ◽  
Cytochrome C Oxidase ◽  
Nuclear Dna ◽  
Genetic Evidence ◽  
Evidence Based ◽  
Oxidase Deficiency ◽  
Leigh’S Syndrome ◽  
Cytochrome C Oxidase Deficiency

Biochemical and molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome

Neurology ◽  
1991 ◽  
Vol 41 (4) ◽  
pp. 491-491 ◽  
Author(s):  
A. Lombes ◽  
H. Nakase ◽  
H.-J. Tritschler ◽  
B. Kadenbach ◽  
E. Bonilla ◽  
...  
Keyword(s):  
Cytochrome C ◽  
Cytochrome C Oxidase ◽  
Molecular Analysis ◽  
Oxidase Deficiency ◽  
Leigh’S Syndrome ◽  
Cytochrome C Oxidase Deficiency

Cytochrome c oxidase deficiency in the muscle of patients with zidovudine myopathy is segmental and affects both mitochondrial DNA- and nuclear DNA-encoded subunits

2000 ◽  
Vol 100 (1) ◽  
pp. 82-86 ◽  
Author(s):  
Mohammed Yerroum ◽  
Christophe Pham-Dang ◽  
François-Jér&#x000F Authier ◽  
Isabelle Monnet ◽  
Romain Gherardi ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Cytochrome C ◽  
Cytochrome C Oxidase ◽  
Nuclear Dna ◽  
Oxidase Deficiency ◽  
Cytochrome C Oxidase Deficiency

scholarly journals The new molecular p.M177T identified in two unrelated patients with clinical features of SCO2-dependent cytochrome c oxidase deficiency

2010 ◽  
Vol 1797 ◽  
pp. 52
Author(s):  
Sylwia Łuczak ◽  
Dorota Piekutowska-Abramczuk ◽  
Paweł Kowalski ◽  
Elżbieta Ciara ◽  
Dorota Jurkiewicz ◽  
...  
Keyword(s):  
Cytochrome C ◽  
Cytochrome C Oxidase ◽  
Clinical Features ◽  
Oxidase Deficiency ◽  
Cytochrome C Oxidase Deficiency

Cytochrome c oxidase deficiency in menkes kinky hair disease

1983 ◽  
Vol 5 (6) ◽  
pp. 533-540 ◽  
Author(s):  
Mitsuo Maehara ◽  
Nobuaki Ogasawara ◽  
Naoki Mizutani ◽  
Kazuyoshi Watanabe ◽  
Sakae Suzuki
Keyword(s):  
Cytochrome C ◽  
Cytochrome C Oxidase ◽  
Oxidase Deficiency ◽  
Cytochrome C Oxidase Deficiency ◽  
Kinky Hair Disease ◽  
Menkes Kinky Hair Disease ◽  
Kinky Hair

Successful treatment of heart failure with enoximone in a patient with cytochrome c oxidase deficiency

1996 ◽  
Vol 155 (6) ◽  
pp. 525-525 ◽  
Author(s):  
A. Timnik ◽  
S. Mühlbauer ◽  
A. Merkenschlager ◽  
K. Reiter ◽  
W. Lindner ◽  
...  
Keyword(s):  
Heart Failure ◽  
Cytochrome C ◽  
Cytochrome C Oxidase ◽  
Successful Treatment ◽  
Oxidase Deficiency ◽  
Cytochrome C Oxidase Deficiency
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