Metabolic Myopathies
Author:
Publisher
Springer Science and Business Media LLC
Subject
Rheumatology
Link
http://link.springer.com/content/pdf/10.1007/s11926-010-0119-9.pdf
Reference49 articles.
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2. McCue ME, Valberg SJ, Miller MB, et al.: Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis. Genomics 2008, 91:458–466.
3. Pitcher J, Smythe C, Cohen P: Glycogenin is the priming glucosyltransferase required for the initiation of glycogen biogenesis in rabbit skeletal muscle. Eur J Biochem 1988, 176:391–395.
4. •• Moslemi A-R, Lindberg C, Nilsson J, et al.: Glycogenin-1 deficiency and inactivated priming of glycogen synthesis. N Engl J Med 2010, 362:1203–1210. These are the long-awaited first mutations in the muscle glycogenin gene and the second example of “glycogenosis 0” in human muscle.
5. •• Stojkovic T, Vissing J, Petit F, et al.: Muscle glycogenosis due to phosphoglucomutase 1 deficiency. N Engl J Med 2009, 361:425–427. This is a new glycolytic defect showing the “typical” syndrome of exercise intolerance, cramps, and recurrent myoglobinuria.
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