Two novel RRM2B gene mutations in a patient with autosomal recessive progressive external ophthalmoplegia, encephalopathy and cytochrome c oxidase deficiency

Mitochondrion ◽  
2012 ◽  
Vol 12 (5) ◽  
pp. 562-563
Author(s):  
Natalie S. Hauser ◽  
Renkui Bai
Keyword(s):  
Cytochrome C ◽  
Cytochrome C Oxidase ◽  
Autosomal Recessive ◽  
Gene Mutations ◽  
Progressive External Ophthalmoplegia ◽  
Oxidase Deficiency ◽  
Cytochrome C Oxidase Deficiency

scholarly journals Adaptation of respiratory chain biogenesis to cytochrome c oxidase deficiency caused by SURF1 gene mutations

2012 ◽  
Vol 1822 (7) ◽  
pp. 1114-1124 ◽  
Author(s):  
Nikola Kovářová ◽  
Alena Čížková Vrbacká ◽  
Petr Pecina ◽  
Viktor Stránecký ◽  
Ewa Pronicka ◽  
...  
Keyword(s):  
Cytochrome C ◽  
Cytochrome C Oxidase ◽  
Respiratory Chain ◽  
Gene Mutations ◽  
Oxidase Deficiency ◽  
Cytochrome C Oxidase Deficiency

SURF1 gene mutations in three cases with Leigh syndrome and cytochrome c oxidase deficiency

Neurology ◽  
2003 ◽  
Vol 61 (7) ◽  
pp. 991-993 ◽  
Author(s):  
A.-R. Moslemi ◽  
M. Tulinius ◽  
N. Darin ◽  
P. Aman ◽  
E. Holme ◽  
...  
Keyword(s):  
Cytochrome C ◽  
Cytochrome C Oxidase ◽  
Gene Mutations ◽  
Leigh Syndrome ◽  
Oxidase Deficiency ◽  
Cytochrome C Oxidase Deficiency

Unusual Clinical Presentations in Four Cases of Leigh Disease, Cytochrome C Oxidase Deficiency, and SURF1 Gene Mutations

2005 ◽  
Vol 20 (8) ◽  
pp. 670-674 ◽  
Author(s):  
Stacey K.H. Tay ◽  
Sabrina Sacconi ◽  
H. Ohran Akman ◽  
Judith F. Morales ◽  
Augusto Morales ◽  
...  
Keyword(s):  
Cytochrome C ◽  
Cytochrome C Oxidase ◽  
Gene Mutations ◽  
Oxidase Deficiency ◽  
Leigh Disease ◽  
Cytochrome C Oxidase Deficiency ◽  
Clinical Presentations

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
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