McArdle’s Disease (Glycogen Storage Disease type V): A Clinical Case
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Publisher
Heighten Science Publications Corporation
Link
https://www.clinmedcasereportsjournal.com/articles/acr-aid1010.pdf
Reference15 articles.
1. 1. Taylor RL, Davis M, Turner E, Brull A, Pinos T, et al. Clinical utility gene card for McArdle disease. European Journal of Human Genetics. 2018; 26: 758-764. Ref.: https://goo.gl/nXGVCj
2. 2. Nogales-Gadea G, Brull A, Santalla A, Andreu AL, Arenas J, et al. McArdle disease: update of reported mutations and polymorphisms in the PYGM gene. Hum Mutat. 2015; 36: 669-678. Ref.: https://goo.gl/yttcfi
3. 3. Vieitez I, Teijeira S, Fernandez JM, San Millan B, Miranda S, et al. Molecular and clinical study of McArdle's disease in a cohort of 123 European patients. Identification of 20 novel mutations. Neuromuscul Disord. 2011; 21: 817-823. Ref.: https://goo.gl/J67zuz
4. 4. Nogales-Gadea G, Rubio JC, Fernandez-Cadenas I, Garcia-Consuegra I, Lucia A, et al. Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay. Hum Mutat. 2008; 29: 277-283. Ref.: https://goo.gl/aSPq79
5. 5. Park HJ, Shin HY, Cho YN, Kim SM, Choi YC. The significance of clinical and laboratory features in the diagnosis of glycogen storage disease type v: a case report. J Korean Med Sci. 2014; 29: 1021-1024. Ref.: https://goo.gl/aVqDtU
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