Glycogen Storage Disease Type V

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Xu, C. Glycogen Storage Disease Type V. Encyclopedia. Available online: https://encyclopedia.pub/entry/4037 (accessed on 28 September 2026).

Xu C. Glycogen Storage Disease Type V. Encyclopedia. Available at: https://encyclopedia.pub/entry/4037. Accessed September 28, 2026.

Xu, Camila. "Glycogen Storage Disease Type V" Encyclopedia, https://encyclopedia.pub/entry/4037 (accessed September 28, 2026).

Xu, C. (2020, December 23). Glycogen Storage Disease Type V. In Encyclopedia. https://encyclopedia.pub/entry/4037

Xu, Camila. "Glycogen Storage Disease Type V." Encyclopedia. Web. 23 December, 2020.

Glycogen Storage Disease Type V

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-v

Glycogen storage disease type V (also known as GSDV or McArdle disease) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in muscle cells. A lack of glycogen breakdown interferes with the function of muscle cells.

genetic conditions

References

Aquaron R, Bergé-Lefranc JL, Pellissier JF, Montfort MF, Mayan M,Figarella-Branger D, Coquet M, Serratrice G, Pouget J. Molecular characterizationof myophosphorylase deficiency (McArdle disease) in 34 patients from SouthernFrance: identification of 10 new mutations. Absence of genotype-phenotypecorrelation. Neuromuscul Disord. 2007 Mar;17(3):235-41.
Bruno C, Cassandrini D, Martinuzzi A, Toscano A, Moggio M, Morandi L, ServideiS, Mongini T, Angelini C, Musumeci O, Comi GP, Lamperti C, Filosto M, Zara F,Minetti C. McArdle disease: the mutation spectrum of PYGM in a large Italiancohort. Hum Mutat. 2006 Jul;27(7):718.
Deschauer M, Morgenroth A, Joshi PR, Gläser D, Chinnery PF, Aasly J, SchreiberH, Knape M, Zierz S, Vorgerd M. Analysis of spectrum and frequencies of mutationsin McArdle disease. Identification of 13 novel mutations. J Neurol. 2007Jun;254(6):797-802.
Gurgel-Giannetti J, Nogales-Gadea G, van der Linden H Jr, Bellard TM,Brasileiro Filho G, Giannetti AV, de Castro Concentino EL, Vainzof M. Clinicaland molecular characterization of McArdle's disease in Brazilian patients.Neuromolecular Med. 2013 Sep;15(3):470-5. doi: 10.1007/s12017-013-8233-2.
Lucia A, Nogales-Gadea G, Pérez M, Martín MA, Andreu AL, Arenas J. McArdledisease: what do neurologists need to know? Nat Clin Pract Neurol. 2008Oct;4(10):568-77. doi: 10.1038/ncpneuro0913. Review.
Lucia A, Ruiz JR, Santalla A, Nogales-Gadea G, Rubio JC, García-Consuegra I,Cabello A, Pérez M, Teijeira S, Vieitez I, Navarro C, Arenas J, Martin MA, AndreuAL. Genotypic and phenotypic features of McArdle disease: insights from theSpanish national registry. J Neurol Neurosurg Psychiatry. 2012 Mar;83(3):322-8.doi: 10.1136/jnnp-2011-301593.
Rubio JC, Garcia-Consuegra I, Nogales-Gadea G, Blazquez A, Cabello A, Lucia A,Andreu AL, Arenas J, Martin MA. A proposed molecular diagnostic flowchart formyophosphorylase deficiency (McArdle disease) in blood samples from Spanishpatients. Hum Mutat. 2007 Feb;28(2):203-4.

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Subjects: Genetics & Heredity

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Update Date: 23 Dec 2020

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