Glycogen Storage Disease

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 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 study group (December 2021). "Clinical follow pointers for glycogen storage illness V & VII (McArdle disease and Tarui disease) from a world study group".

The quantity of force that the muscle creates varies -- the muscle can contract somewhat 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 called fibers. You possibly can consider muscle fibers as lengthy cylinders, and compared to 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 physique 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 comprise two kinds of filaments that run alongside 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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