Adult muscle phosphorylase 'b' kinase deficiency
| Autor: | N. Bashan, R Potashnik, Alicia Osimani, S. W. Moses, J. M. Abarbanel, Yuval Herishanu |
|---|---|
| Rok vydání: | 1986 |
| Předmět: |
Adult
Male medicine.medical_specialty Phosphorylases Physical Exertion Glycogen phosphorylase chemistry.chemical_compound Muscular Diseases Internal medicine medicine Humans Phosphorylase b Muscle Cramp Hand muscles Muscle biopsy medicine.diagnostic_test Glycogen Kinase business.industry Venous blood Endocrinology chemistry Immunohistochemistry Neurology (clinical) Contracture medicine.symptom business |
| Zdroj: | Neurology. 36(4) |
| ISSN: | 0028-3878 |
| Popis: | A 35-year-old man had severe exercise intolerance and cramps. Venous blood lactate did not rise after ischemic exercise, and electromyographically silent contracture of hand muscles appeared. Histochemistry and electronmicroscopy of a muscle biopsy revealed subsarcolemmal and intermyofibrillar accumulation of glycogen. Biochemical studies showed moderately increased amount of glycogen. Total phosphorylase activity was normal, but the active form "a" was 27% of normal. Phosphorylase kinase activity was 12% of the normal value and was normal in leukocytes and erythrocytes. |
| Databáze: | OpenAIRE |
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