Respiratory chain enzymes were studied in isolated mitochondria of two patients with mitochondrial myopathy. Both patients had been suffering from chronic progressive external ophthalmoplegia and abnormal muscular fatigability since late childhood. One of the patients exhibited the complete triad of
✦ LIBER ✦
Familial cardiomyopathy due to mitochondrial respiratory chain disorder: Complexes I and IV associated deficiency
✍ Scribed by N.B. Romero; C. Marsac; M. Patumeau-Jouas; H. Ogier; S. Magnier; R. Chirio; M. Fardeau
- Book ID
- 115982685
- Publisher
- Elsevier Science
- Year
- 1991
- Tongue
- English
- Weight
- 101 KB
- Volume
- 23
- Category
- Article
- ISSN
- 0022-2828
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
Partial deficiency of complexes I and IV
✍
J. Bleistein; S. Zierz
📂
Article
📅
1989
🏛
Springer
🌐
English
⚖ 896 KB
Compensatory upregulation of respiratory
✍
Vendula Havlíčková Karbanová; Alena Čížková Vrbacká; Kateřina Hejzlarová; Hana N
📂
Article
📅
2012
🏛
Elsevier Science
🌐
English
⚖ 388 KB
Sporadic heteroplasmic single 5.5 Kb mit
✍
Antoni Barrientos; Jordi Casademont; David Genís; Francesc Cardellach; José Manu
📂
Article
📅
1997
🏛
John Wiley and Sons
🌐
English
⚖ 166 KB
This report describes a patient with cerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy, associated with mitochondrial respiratory chain complex I deficiency and a 5.5 kb mtDNA single deletion in skeletal muscle. Hum Mutat 10:212-216, 1997.
The Mitochondrial DNA Mutation ND6*14,48
✍
R.J. Oostra; M.J.M. Vangalen; P.A. Bolhuis; E.M. Bleekerwagemakers; C. Vandenbog
📂
Article
📅
1995
🏛
Elsevier Science
🌐
English
⚖ 226 KB
MLP028 Deficiencies of complex I and IV
✍
I. Erol; F. Alehan; R. Horvath; H. Lochmüller; B. Talim
📂
Article
📅
2007
🏛
Elsevier Science
🌐
English
⚖ 42 KB