Dystonia and Partial Cytochrome B Deficiency
نویسندگان
چکیده
منابع مشابه
A PARTIAL SEPARATION AND CHARACTERIZATION OF CYTOCHROME OXIDASE AND CYTOCHROME b*
Numerous attempts have been made to separate the insoluble cytochromes of mammalian heart muscle. Von Euler and Hellstriim in 1939 (1) used sodium cholate and ammonium sulfate and obtained a preparation containing only cytochrome b. Straub (2) obtained a fraction with sodium cholate and ammonium sulfate in which he demonstrated cytochrome oxidase (called cytochrome a3 by him after Keilin and Ha...
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Two NADH diaphorases, diaphorase I and II, were isolated from normal red cells and congenital methemoglobinemic red cells by CM-cellulose and DE 32 column chromatography. For methemoglobinemic sample, activities of diaphorase I and diaphorase II were 80% and less than 5% of those for the normal red cells, respectively. Only diaphorase II showed cytochrome b5 reductase activity. The cytochrome b...
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A 16 year old girl showed delayed psychomotor development. In infancy, exercise intolerance, cerebellar signs, deteriorated with increasing intercurrent infections, and disturbances of breathing and cardiac rhythm became manifest. From the age of 7 years there was chronic progressive psychomotor deterioration, with hypotonia, a bilateral pyramidal and cerebellar syndrome, and mild epilepsy. CSF...
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A 19-year-old man born with thyroprivic hypothyroidism, due to congenital development defect, manifested hypogonadism, stunted growth, chronic progressive external ophthalmoplegia (CPEO), diffuse muscle weakness and wasting, right bundle branch block, cerebral atrophy. Muscle biopsy showed mitochondrial abnormalities. Biochemical investigations on muscle disclosed partial (50%) cytochrome c oxi...
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BACKGROUND Cervical dystonia is the most common form of focal dystonia. It is characterized by involuntary posturing of the head and frequently is associated with neck pain. Disability and social withdrawal are common. Most cases of cervical dystonia are idiopathic and generally it is a life-long disorder. In recent years, Botulinum toxin type A (BtA) has become the first line therapy. However,...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 1991
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-5-4-2