Glycogen Storage Disease

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작성자 Donnell 작성일 25-09-29 20:14 조회 19 댓글 0

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Hedberg-Oldfors, Carola; Oldfors, Anders (2015). "Polyglucosan storage myopathies". Molecular Aspects of Medicine. Echaniz-Laguna A, Lornage X, Laforêt P, Orngreen MC, Edelweiss E, Brochier G, Bui MT, Silva-Rojas R, Healthy Flow Blood supplement Birck C, Lannes B, Romero NB, Vissing J, Laporte J, Böhm J. A new Glycogen Storage Disease Caused by a Dominant PYGM Mutation. Ann Neurol. 2020 Aug;88(2):274-282. Echaniz-Laguna, A.; Lornage, X.; Edelweiss, E.; Laforêt, P.; Eymard, B.; Vissing, J.; Laporte, J.; Böhm, J. (October 2019). "O.5A new glycogen storage disorder caused by a dominant mutation within the glycogen myophosphorylase gene (PYGM)". Neuromuscular Disorders. 29: S39. Rose MR, Howard RS, Genet SA, McMahon CJ, Whitfield A, Morgan-Hughes JA. A case of myopathy related to a dystrophin gene deletion and abnormal glycogen storage. Muscle Nerve. 1993 Jan;16(1):57-62. Lucia, Alejandro; Martinuzzi, Andrea; Nogales-Gadea, Gisela; Quinlivan, Ros; Reason, circulation booster supplement Stacey; International Association for Muscle Glycogen Storage Disease study group (December 2021). "Clinical observe tips for glycogen storage illness V & VII (McArdle disease and Tarui disease) from a world examine group".

The amount of power that the muscle creates varies -- the muscle can contract a little bit or lots relying on the sign that the nerve sends. All that any muscle can do is create contraction drive. A muscle is a bundle of many cells known as fibers. You may consider muscle fibers as long cylinders, and in comparison with other cells in your physique, muscle fibers are fairly big. They're from about 1 to 40 microns long and 10 to a hundred microns in diameter. For comparison, a strand of hair is about one hundred microns in diameter, and a typical cell in your body is about 10 microns in diameter. A muscle fiber accommodates many myofibrils, which are cylinders of muscle proteins. These proteins permit a muscle cell to contract. Myofibrils contain two sorts of filaments that run along the lengthy axis of the fiber, and these filaments are arranged in hexagonal patterns. There are thick and skinny filaments. Each thick filament is surrounded by six skinny filaments.

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