Combined deficiencies of the pyruvate dehydrogenase complex and enzymes of the respiratory chain in mitochondrial myopathies
✍ Scribed by W. Sperl; W. Ruitenbeek; R. C. A. Sengers; J. M. F. Trijbels; H. Bentlage; J. E. Wraith; C. Heilmann; S. Stöckler; C. Binder; G. -C. Korenke; F. Hanefeld
- Publisher
- Springer
- Year
- 1992
- Tongue
- English
- Weight
- 530 KB
- Volume
- 151
- Category
- Article
- ISSN
- 0340-6997
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
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
Defects of the mitochondrial respiratoiy chain are increasingly being recognized as an important cause of neurological disease in humans. In many of these patients, the biochemical defect results from an abnormality of the mitochondrial genome. Respiratory chain defects involving complex 11, which i
Most of the mutations causing deficiency of the pyruvate dehydrogenase (PDH) complex are in the X-linked E,a gene. We have developed a rapid screening method for the detection of mutations in this gene using reverse transcription of total RNA, polymerase chain reaction amplification of the whole cod