Journal article
Mcardle's disease. A case report
Turkish journal of pediatrics, Vol.38(3), pp.355-359
07/01/1996
PMID: 8827906
Abstract
McArdle's disease is a hereditary, metabolic myopathy characterized by weakness and muscle cramps after exercise, appearing mostly in the second or third decade of life. Due to myophosphorylase deficiency in skeletal muscle, glycogen cannot be used and deposited in the sarcolemmal spaces, leading to lack of endurance to sustained work. The ischemic exercise test is a screening procedure for muscle energy disorders, and the diagnosis is confirmed by reduced enzyme activity in muscle biopsy. In this report, a family with one child having enzyme assay-proven McArdle's disease and two other children demonstrating a positive ischemic exercise test is presented.
Details
- Title: Subtitle
- Mcardle's disease. A case report
- Creators
- E DirikF TaşkinY EroğluB BüyükgebizM SelamzadeN T Cevik
- Resource Type
- Journal article
- Publication Details
- Turkish journal of pediatrics, Vol.38(3), pp.355-359
- PMID
- 8827906
- ISSN
- 0041-4301
- Language
- English
- Date published
- 07/01/1996
- Academic Unit
- Stead Family Department of Pediatrics; Gastroenterology, Hepatology, Pancreatology, and Nutrition
- Record Identifier
- 9984693962402771
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