Glycogen Storage Disease > 자유게시판

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 new Glycogen Storage Disease Brought on 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 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 associated with a dystrophin gene deletion and abnormal glycogen storage. Muscle Nerve. 1993 Jan;16(1):57-62. Lucia, Alejandro; Martinuzzi, Andrea; Nogales-Gadea, Healthy Flow Blood Gisela; Quinlivan, Ros; Reason, Stacey; International Association for Muscle Glycogen Storage Disease examine group (December 2021). "Clinical apply guidelines for glycogen storage illness V & VII (McArdle disease and Tarui disease) from a world research group".

The quantity of force that the muscle creates varies -- the muscle can contract slightly or a lot relying on the sign 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 can think of muscle fibers as long cylinders, and compared to other cells in your physique, muscle fibers are quite large. They're from about 1 to forty microns lengthy and 10 to 100 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, that are cylinders of muscle proteins. These proteins permit a muscle cell to contract. Myofibrils comprise two varieties of filaments that run along the lengthy axis of the fiber, and these filaments are arranged in hexagonal patterns. There are thick and thin filaments. Each thick filament is surrounded by six thin filaments.

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