Glycogen Storage Disease
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작성자 Matilda 작성일 25-12-03 11:08 조회 9 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 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 attributable to 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 associated with 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 examine group (December 2021). "Clinical follow guidelines for glycogen storage illness V & VII (McArdle illness and Tarui illness) from a global study group".
The amount of power that the muscle creates varies -- the muscle can contract somewhat or lots depending 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 called fibers. You'll be able to think of muscle fibers as lengthy cylinders, and compared to different cells in your physique, muscle fibers are fairly huge. They are from about 1 to forty microns long and 10 to one hundred microns in diameter. For comparability, 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 incorporates many myofibrils, that are cylinders of muscle proteins. These proteins allow a muscle cell to contract. Myofibrils include two types of filaments that run alongside 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 thin filaments.
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