Glycogen Storage Disease
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작성자 Connie 작성일 25-10-04 15:29 조회 3 댓글 0본문
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, Birck C, Lannes B, Romero NB, Vissing J, Laporte J, Böhm J. A brand new Glycogen Storage Disease Attributable to 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 brought on by a dominant mutation in 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, Stacey; International Association for Muscle Glycogen Storage Disease study group (December 2021). "Clinical practice pointers for glycogen storage disease V & VII (McArdle disease and Tarui disease) from a world study group".
The amount of drive that the muscle creates varies -- the muscle can contract slightly or quite a bit relying on the signal that the nerve sends. All that any muscle can do is create contraction force. A muscle is a bundle of many cells referred to as fibers. You possibly can consider muscle fibers as lengthy cylinders, and in comparison with other cells in your physique, muscle fibers are quite big. They are from about 1 to forty microns lengthy and 10 to one hundred microns in diameter. For comparison, a strand of hair is about a hundred microns in diameter, and a typical cell in your body is about 10 microns in diameter. A muscle fiber contains many myofibrils, which are cylinders of muscle proteins. These proteins allow a muscle cell to contract. Myofibrils include two kinds of filaments that run along the lengthy axis of the fiber, and these filaments are organized in hexagonal patterns. There are thick and thin filaments. Each thick filament is surrounded by six skinny filaments.
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