Glycogen storage disease type V (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Glycogen storage disease type V" in English language version.

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Ph.D, Kathryn Elizabeth Birch (2011-07-01). The McArdle Disease Handbook: A guide to the scientific and medical research into McArdle Disease, explained in plain English. AGSD-UK. ISBN 978-0-9569658-1-3.

creativecommons.org

"PYGM - Glycogen phosphorylase, muscle form - Homo sapiens (Human) - PYGM gene & protein". www.uniprot.org. Retrieved 2018-08-31. This article incorporates text available under the CC BY 4.0 license.

doi.org

Nagaraju K, Lundberg IE (2013). "Inflammatory Diseases of Muscle and Other Myopathies". In Firestein GS, Budd RC, Gabriel SE, McInnes IB, O'Dell JR (eds.). Kelley's Textbook of Rheumatology. pp. 1404–1430.e5. doi:10.1016/b978-1-4377-1738-9.00085-2. ISBN 978-1-4377-1738-9.
Rubio JC, Garcia-Consuegra I, Nogales-Gadea G, Blazquez A, Cabello A, Lucia A, et al. (February 2007). "A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients". Human Mutation. 28 (2): 203–204. doi:10.1002/humu.9474. PMID 17221871.
Valberg SJ (2008). "Skeletal Muscle Function". In Kaneko JJ, Harvey JW, Bruss MO (eds.). Clinical Biochemistry of Domestic Animals. pp. 459–484. doi:10.1016/b978-0-12-370491-7.00015-5. ISBN 978-0-12-370491-7.
Reason SL, Voermans N, Lucia A, Vissing J, Quinlivan R, Bhai S, Wakelin A (July 2023). "Development of Continuum of Care for McArdle disease: A practical tool for clinicians and patients". Neuromuscular Disorders. 33 (7): 575–579. doi:10.1016/j.nmd.2023.05.006. PMID 37354872. S2CID 259141690.
Wolfe GI, Baker NS, Haller RG, Burns DK, Barohn RJ (April 2000). "McArdle's disease presenting with asymmetric, late-onset arm weakness". Muscle & Nerve. 23 (4): 641–645. doi:10.1002/(SICI)1097-4598(200004)23:4<641::AID-MUS25>3.0.CO;2-M. PMID 10716777. S2CID 22423841.
Scalco, Renata Siciliani; Morrow, Jasper M.; Booth, Suzanne; Chatfield, Sherryl; Godfrey, Richard; Quinlivan, Ros (September 2017). "Misdiagnosis is an important factor for diagnostic delay in McArdle disease". Neuromuscular Disorders. 27 (9): 852–855. doi:10.1016/j.nmd.2017.04.013. ISSN 1873-2364. PMID 28629675.
Chéraud, Chrystel; Froissart, Roseline; Lannes, Béatrice; Echaniz-Laguna, Andoni (January 2018). "Novel variant in the PYGM gene causing late-onset limb-girdle myopathy, ptosis, and camptocormia". Muscle & Nerve. 57 (1): 157–160. doi:10.1002/mus.25588. ISSN 1097-4598. PMID 28120463. S2CID 206298597.
Kost, G. J.; Verity, M. A. (1980). "A new variant of late-onset myophosphorylase deficiency". Muscle & Nerve. 3 (3): 195–201. doi:10.1002/mus.880030302. ISSN 0148-639X. PMID 6929403.
DiMauro, S.; Hartlage, P. L. (November 1978). "Fatal infantile form of muscle phosphorylase deficiency". Neurology. 28 (11): 1124–1129. doi:10.1212/wnl.28.11.1124. ISSN 0028-3878. PMID 101896.
Milstein, J. M.; Herron, T. M.; Haas, J. E. (July 1989). "Fatal infantile muscle phosphorylase deficiency". Journal of Child Neurology. 4 (3): 186–188. doi:10.1177/088307388900400305. ISSN 0883-0738. PMID 2768781.
Vissing, John; Duno, Morten; Schwartz, Marianne; Haller, Ronald G. (June 2009). "Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease". Brain: A Journal of Neurology. 132 (Pt 6): 1545–1552. doi:10.1093/brain/awp065. ISSN 1460-2156. PMID 19433441.
Bruno, C.; Löfberg, M.; Tamburino, L.; Jänkälä, H.; Hadjigeorgiou, G. M.; Andreu, A. L.; Shanske, S.; Somer, H.; DiMauro, S. (1999-06-01). "Molecular characterization of McArdle's disease in two large Finnish families". Journal of the Neurological Sciences. 165 (2): 121–125. doi:10.1016/s0022-510x(99)00091-x. ISSN 0022-510X. PMID 10450796.
Iyengar, S.; Kalinsky, H.; Weiss, S.; Korostishevsky, M.; Sadeh, M.; Zhao, Y.; Kidd, K. K.; Bonne-Tamir, B. (May 1997). "Homozygosity by descent for a rare mutation in the myophosphorylase gene is associated with variable phenotypes in a Druze family with McArdle disease". Journal of Medical Genetics. 34 (5): 391–394. doi:10.1136/jmg.34.5.391. ISSN 0022-2593. PMC 1050946. PMID 9152836.
Lucia A, Martinuzzi A, Nogales-Gadea G, Quinlivan R, Reason S (December 2021). "Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international study group". Neuromuscular Disorders. 31 (12): 1296–1310. doi:10.1016/j.nmd.2021.10.006. PMID 34848128. S2CID 240123241.
Salazar-Martínez E, Santalla A, Valenzuela PL, Nogales-Gadea G, Pinós T, Morán M, et al. (2021). "The Second Wind in McArdle Patients: Fitness Matters". Frontiers in Physiology. 12: 744632. doi:10.3389/fphys.2021.744632. PMC 8555491. PMID 34721068.
Perez, M.; Martin, M. A.; Rubio, J. C.; Maté-Muñoz, J. L.; Gómez-Gallego, F.; Foster, C.; Andreu, A. L.; Arenas, J.; Lucia, A.; Fleck, S. J. (August 2006). "Exercise capacity in a 78 year old patient with McArdle's disease: it is never too late to start exercising". British Journal of Sports Medicine. 40 (8): 725–726, discussion 726. doi:10.1136/bjsm.2006.026666. ISSN 1473-0480. PMC 2579473. PMID 16864568.
Scalco RS, Lucia A, Santalla A, Martinuzzi A, Vavla M, Reni G, et al. (November 2020). "Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)". Orphanet Journal of Rare Diseases. 15 (1): 330. doi:10.1186/s13023-020-01562-x. PMC 7687836. PMID 33234167.
Quinlivan, Ros; Buckley, John; Twist, Anthony; Ball, Sarah; Duno, Morten; Vissing, John; Bruno, Claudio; Cassandrini, Denise; Roberts, Mark; Winer, John (November 2010). "McArdle Disease: a clinical review". Journal of Neurology, Neurosurgery, and Psychiatry. 81 (11): 1182–1188. doi:10.1136/jnnp.2009.195040. PMID 20861058 – via HAL Open Science (HAL ID: hal-00578727).
Rodríguez-Gómez I, Santalla A, Díez-Bermejo J, Munguía-Izquierdo D, Alegre LM, Nogales-Gadea G, et al. (November 2018). "Non-osteogenic muscle hypertrophy in children with McArdle disease". Journal of Inherited Metabolic Disease. 41 (6): 1037–1042. doi:10.1007/s10545-018-0170-7. hdl:10578/19657. PMID 29594644. S2CID 4394513.
Rodríguez-Gómez, Irene; Santalla, Alfredo; Díez-Bermejo, Jorge; Munguía-Izquierdo, Diego; Alegre, Luis M.; Nogales-Gadea, Gisela; Arenas, Joaquin; Martín, Miguel Ángel; Lucía, Alejandro; Ara, Ignacio (January 2018). "A New Condition in McArdle Disease: Poor Bone Health—Benefits of an Active Lifestyle". Medicine & Science in Sports & Exercise. 50 (1): 3–10. doi:10.1249/MSS.0000000000001414. ISSN 0195-9131. PMID 29251685. S2CID 4414503.
Pietrusz, Aleksandra; Scalco, Renata S.; Quinlivan, Ros (2018). "Resistance Exercise Training in McArdle Disease: Myth or Reality?". Case Reports in Neurological Medicine. 2018: 9658251. doi:10.1155/2018/9658251. ISSN 2090-6668. PMC 6186374. PMID 30363996Patient 1 had hypertrophy of calf, deltoid and bicep muscles before resistance training commenced, while living a sedentary lifestyle with an office job, walking short distances was difficult as was everyday tasks like vacuuming and cutting the grass. After four years of resistance training, pre-existing hypertrophy in deltoid muscles increased further and muscle bulk was gained in additional muscle groups (quadriceps, gluteus, pectoralis, and trapezius muscles).{{cite journal}}: CS1 maint: postscript (link)
Slipsager, Anna; Andersen, Linda Kahr; Voermans, Nicol Cornelia; Lucia, Alejandro; Karazi, Walaa; Santalla, Alfredo; Vissing, John; Løkken, Nicoline (2023-11-11). "Fatigue and associated factors in 172 patients with McArdle disease: An international web-based survey". Neuromuscular Disorders. 34: 19–26. doi:10.1016/j.nmd.2023.11.003. ISSN 1873-2364. PMID 38042739.
Scalco RS, Chatfield S, Godfrey R, Pattni J, Ellerton C, Beggs A, et al. (July 2014). "From exercise intolerance to functional improvement: the second wind phenomenon in the identification of McArdle disease". Arquivos de Neuro-Psiquiatria. 72 (7): 538–541. doi:10.1590/0004-282x20140062. PMID 25054987.
Pearson CM, Rimer DG, Mommaerts WF (April 1961). "A metabolic myopathy due to absence of muscle phosphorylase". The American Journal of Medicine. 30 (4): 502–517. doi:10.1016/0002-9343(61)90075-4. PMID 13733779.
Brull A, de Luna N, Blanco-Grau A, Lucia A, Martin MA, Arenas J, et al. (June 2015). "Phenotype consequences of myophosphorylase dysfunction: insights from the McArdle mouse model". The Journal of Physiology. 593 (12): 2693–2706. doi:10.1113/JP270085. PMC 4500353. PMID 25873271.
Mineo I, Kono N, Hara N, Shimizu T, Yamada Y, Kawachi M, et al. (July 1987). "Myogenic hyperuricemia. A common pathophysiologic feature of glycogenosis types III, V, and VII". The New England Journal of Medicine. 317 (2): 75–80. doi:10.1056/NEJM198707093170203. PMID 3473284.
Mineo I, Tarui S (1995). "Myogenic hyperuricemia: what can we learn from metabolic myopathies?". Muscle & Nerve. Supplement. 3: S75–S81. doi:10.1002/mus.880181416. PMID 7603532. S2CID 41588282.
Triplet, Jacob J.; Goss, David A.; Taylor, Benjamin (September 2017). "Spontaneous Compartment Syndrome in a Patient with McArdle Disease: A Case Report and Review of the Literature". JBJS Case Connector. 7 (3): e49. doi:10.2106/JBJS.CC.16.00196. ISSN 2160-3251. PMID 29252879. S2CID 1883161.
Mull, Aaron B.; Wagner, Janelle I.; Mycktayn, Terence M.; Kells, Amy F. (December 2015). "Recurrent Compartment Syndrome Leading to the Diagnosis of McArdle Disease: Case Report". The Journal of Hand Surgery. 40 (12): 2377–2379. doi:10.1016/j.jhsa.2015.09.015. ISSN 0363-5023. PMID 26612634.
Martín MA, Rubio JC, Wevers RA, Van Engelen BG, Steenbergen GC, Van Diggelen OP, et al. (January 2004). "Molecular analysis of myophosphorylase deficiency in Dutch patients with McArdle's disease". Annals of Human Genetics. 68 (Pt 1): 17–22. doi:10.1046/j.1529-8817.2003.00067.x. PMID 14748827. S2CID 41149417.
Rubio JC, Lucia A, Fernández-Cadenas I, Cabello A, Blázquez A, Gámez J, et al. (December 2006). "Novel mutation in the PYGM gene resulting in McArdle disease". Archives of Neurology. 63 (12): 1782–1784. doi:10.1001/archneur.63.12.1782. PMID 17172620.
"UniProt: the universal protein knowledgebase". Nucleic Acids Research. 45 (D1): D158–D169. January 2017. doi:10.1093/nar/gkw1099. PMC 5210571. PMID 27899622.
Zange, Jochen; Grehl, Torsten; Disselhorst-Klug, Catherine; Rau, Günter; Müller, Klaus; Schröder, Rolf; Tegenthoff, Martin; Malin, Jean-Pierre; Vorgerd, Matthias (June 2003). "Breakdown of adenine nucleotide pool in fatiguing skeletal muscle in McArdle's disease: a noninvasive 31P-MRS and EMG study". Muscle & Nerve. 27 (6): 728–736. doi:10.1002/mus.10377. ISSN 0148-639X. PMID 12766985.
Kitaoka Y (February 2014). "McArdle Disease and Exercise Physiology". Biology. 3 (1): 157–166. doi:10.3390/biology3010157. PMC 4009758. PMID 24833339.
Rodriguez-Lopez, Carlos; Santalla, Alfredo; Valenzuela, Pedro L.; Real-Martínez, Alberto; Villarreal-Salazar, Mónica; Rodriguez-Gomez, Irene; Pinós, Tomàs; Ara, Ignacio; Lucia, Alejandro (February 2023). "Muscle glycogen unavailability and fat oxidation rate during exercise: Insights from McArdle disease". The Journal of Physiology. 601 (3): 551–566. doi:10.1113/JP283743. ISSN 1469-7793. PMC 10099855. PMID 36370371.
Hagberg, J. M.; Coyle, E. F.; Carroll, J. E.; Miller, J. M.; Martin, W. H.; Brooke, M. H. (April 1982). "Exercise hyperventilation in patients with McArdle's disease". Journal of Applied Physiology: Respiratory, Environmental and Exercise Physiology. 52 (4): 991–994. doi:10.1152/jappl.1982.52.4.991. ISSN 0161-7567. PMID 6953061.
Hagberg, J. M.; King, D. S.; Rogers, M. A.; Montain, S. J.; Jilka, S. M.; Kohrt, W. M.; Heller, S. L. (April 1990). "Exercise and recovery ventilatory and VO2 responses of patients with McArdle's disease". Journal of Applied Physiology. 68 (4): 1393–1398. doi:10.1152/jappl.1990.68.4.1393. ISSN 8750-7587. PMID 2347781.
Kazemi-Esfarjani P, Skomorowska E, Jensen TD, Haller RG, Vissing J (August 2002). "A nonischemic forearm exercise test for McArdle disease". Annals of Neurology. 52 (2): 153–159. doi:10.1002/ana.10263. PMID 12210784. S2CID 43237025.
Semplicini, Claudio; Hézode-Arzel, Marianne; Laforêt, Pascal; Béhin, Anthony; Leonard-Louis, Sarah; Hogrel, Jean-Yves; Petit, François; Eymard, Bruno; Stojkovic, Tanya; Fournier, Emmanuel (2018-01-19). "The role of electrodiagnosis with long exercise test in mcardle disease". Muscle & Nerve. 58: 64–71. doi:10.1002/mus.26074. ISSN 1097-4598. PMID 29350794. S2CID 3885470.
Echaniz-Laguna, A.; Lornage, X.; Edelweiss, E.; Laforêt, P.; Eymard, B.; Vissing, J.; Laporte, J.; Böhm, J. (October 2019). "O.5 A new glycogen storage disorder caused by a dominant mutation in the glycogen myophosphorylase gene (PYGM)". Neuromuscular Disorders. 29: S39. doi:10.1016/j.nmd.2019.06.023. ISSN 0960-8966. S2CID 203582211.
Echaniz-Laguna, Andoni; Lornage, Xavière; Laforêt, Pascal; Orngreen, Mette C.; Edelweiss, Evelina; Brochier, Guy; Bui, Mai T.; Silva-Rojas, Roberto; Birck, Catherine; Lannes, Béatrice; Romero, Norma B.; Vissing, John; Laporte, Jocelyn; Böhm, Johann (August 2020). "A New Glycogen Storage Disease Caused by a Dominant PYGM Mutation". Annals of Neurology. 88 (2): 274–282. doi:10.1002/ana.25771. ISSN 0364-5134. PMID 32386344. S2CID 218572587.
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Haller RG, Wyrick P, Taivassalo T, Vissing J (June 2006). "Aerobic conditioning: an effective therapy in McArdle's disease". Annals of Neurology. 59 (6): 922–928. doi:10.1002/ana.20881. PMID 16718692. S2CID 31921729.
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Vorgerd M, Grehl T, Jager M, Muller K, Freitag G, Patzold T, et al. (July 2000). "Creatine therapy in myophosphorylase deficiency (McArdle disease): a placebo-controlled crossover trial". Archives of Neurology. 57 (7): 956–963. doi:10.1001/archneur.57.7.956. PMID 10891977.
Quinlivan, Rosaline; Martinuzzi, Andrea; Schoser, Benedikt (2014-11-12). "Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V)". The Cochrane Database of Systematic Reviews. 2014 (11): CD003458. doi:10.1002/14651858.CD003458.pub5. ISSN 1469-493X. PMC 7173724. PMID 25391139.
Løkken N, Hansen KK, Storgaard JH, Ørngreen MC, Quinlivan R, Vissing J (July 2020). "Titrating a modified ketogenic diet for patients with McArdle disease: A pilot study". Journal of Inherited Metabolic Disease. 43 (4): 778–786. doi:10.1002/jimd.12223. PMID 32060930. S2CID 211121921.
Løkken N, Voermans NC, Andersen LK, Karazi W, Reason SL, Zweers H, et al. (February 2023). "Patient-Reported Experiences with a Low-Carbohydrate Ketogenic Diet: An International Survey in Patients with McArdle Disease". Nutrients. 15 (4): 843. doi:10.3390/nu15040843. PMC 9964801. PMID 36839201.
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Mommaerts WF, Illingworth B, Pearson CM, Guillory RJ, Seraydarian K (June 1959). "A Functional Disorder of Muscle Associated with the Absence of Phosphorylase". Proceedings of the National Academy of Sciences of the United States of America. 45 (6): 791–797. Bibcode:1959PNAS...45..791M. doi:10.1073/pnas.45.6.791. PMC 222638. PMID 16590445.
DiMauro, Salvatore; Akman, Hasan Orhan (2015-01-01), Rosenberg, Roger N.; Pascual, Juan M. (eds.), "Chapter 54 - Glycogen Storage Diseases", Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease (Fifth Edition), Boston: Academic Press, pp. 607–614, doi:10.1016/b978-0-12-410529-4.00054-1, ISBN 978-0-12-410529-4, retrieved 2023-11-11
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Brull, Astrid; de Luna, Noemí; Blanco-Grau, Albert; Lucia, Alejandro; Martin, Miguel Angel; Arenas, Joaquin; Martí, Ramon; Andreu, Antoni L.; Pinós, Tomàs (2015-06-15). "Phenotype consequences of myophosphorylase dysfunction: insights from the McArdle mouse model". The Journal of Physiology. 593 (12): 2693–2706. doi:10.1113/JP270085. ISSN 1469-7793. PMC 4500353. PMID 25873271.

hal.science

Quinlivan, Ros; Buckley, John; Twist, Anthony; Ball, Sarah; Duno, Morten; Vissing, John; Bruno, Claudio; Cassandrini, Denise; Roberts, Mark; Winer, John (November 2010). "McArdle Disease: a clinical review". Journal of Neurology, Neurosurgery, and Psychiatry. 81 (11): 1182–1188. doi:10.1136/jnnp.2009.195040. PMID 20861058 – via HAL Open Science (HAL ID: hal-00578727).

handle.net

hdl.handle.net

Rodríguez-Gómez I, Santalla A, Díez-Bermejo J, Munguía-Izquierdo D, Alegre LM, Nogales-Gadea G, et al. (November 2018). "Non-osteogenic muscle hypertrophy in children with McArdle disease". Journal of Inherited Metabolic Disease. 41 (6): 1037–1042. doi:10.1007/s10545-018-0170-7. hdl:10578/19657. PMID 29594644. S2CID 4394513.

harvard.edu

ui.adsabs.harvard.edu

Mommaerts WF, Illingworth B, Pearson CM, Guillory RJ, Seraydarian K (June 1959). "A Functional Disorder of Muscle Associated with the Absence of Phosphorylase". Proceedings of the National Academy of Sciences of the United States of America. 45 (6): 791–797. Bibcode:1959PNAS...45..791M. doi:10.1073/pnas.45.6.791. PMC 222638. PMID 16590445.

iamgsd.org

Wakelin A (2017). Living With McArdle Disease (PDF). IAMGSD.
Wakelin A (2013). 101 Tips For A Good Life With McArdle Disease (PDF). AGSD-UK Ltd.
"IAMGSD | Training support". iamgsd. Retrieved 2022-12-04.

lww.com

journals.lww.com

Rodríguez-Gómez, Irene; Santalla, Alfredo; Díez-Bermejo, Jorge; Munguía-Izquierdo, Diego; Alegre, Luis M.; Nogales-Gadea, Gisela; Arenas, Joaquin; Martín, Miguel Ángel; Lucía, Alejandro; Ara, Ignacio (January 2018). "A New Condition in McArdle Disease: Poor Bone Health—Benefits of an Active Lifestyle". Medicine & Science in Sports & Exercise. 50 (1): 3–10. doi:10.1249/MSS.0000000000001414. ISSN 0195-9131. PMID 29251685. S2CID 4414503.
Triplet, Jacob J.; Goss, David A.; Taylor, Benjamin (September 2017). "Spontaneous Compartment Syndrome in a Patient with McArdle Disease: A Case Report and Review of the Literature". JBJS Case Connector. 7 (3): e49. doi:10.2106/JBJS.CC.16.00196. ISSN 2160-3251. PMID 29252879. S2CID 1883161.

mhmedical.com

accesspediatrics.mhmedical.com

Bissonnette B, Luginbuehl I, Engelhardt T (2019). "Glycogen Storage Disease Type V (GSD V)". Syndromes: Rapid Recognition and Perioperative Implications (2nd ed.). New York, NY: McGraw-Hill Education. Retrieved 2021-12-12.

nih.gov

pubmed.ncbi.nlm.nih.gov

Rubio JC, Garcia-Consuegra I, Nogales-Gadea G, Blazquez A, Cabello A, Lucia A, et al. (February 2007). "A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients". Human Mutation. 28 (2): 203–204. doi:10.1002/humu.9474. PMID 17221871.
Reason SL, Voermans N, Lucia A, Vissing J, Quinlivan R, Bhai S, Wakelin A (July 2023). "Development of Continuum of Care for McArdle disease: A practical tool for clinicians and patients". Neuromuscular Disorders. 33 (7): 575–579. doi:10.1016/j.nmd.2023.05.006. PMID 37354872. S2CID 259141690.
Wolfe GI, Baker NS, Haller RG, Burns DK, Barohn RJ (April 2000). "McArdle's disease presenting with asymmetric, late-onset arm weakness". Muscle & Nerve. 23 (4): 641–645. doi:10.1002/(SICI)1097-4598(200004)23:4<641::AID-MUS25>3.0.CO;2-M. PMID 10716777. S2CID 22423841.
Scalco, Renata Siciliani; Morrow, Jasper M.; Booth, Suzanne; Chatfield, Sherryl; Godfrey, Richard; Quinlivan, Ros (September 2017). "Misdiagnosis is an important factor for diagnostic delay in McArdle disease". Neuromuscular Disorders. 27 (9): 852–855. doi:10.1016/j.nmd.2017.04.013. ISSN 1873-2364. PMID 28629675.
Chéraud, Chrystel; Froissart, Roseline; Lannes, Béatrice; Echaniz-Laguna, Andoni (January 2018). "Novel variant in the PYGM gene causing late-onset limb-girdle myopathy, ptosis, and camptocormia". Muscle & Nerve. 57 (1): 157–160. doi:10.1002/mus.25588. ISSN 1097-4598. PMID 28120463. S2CID 206298597.
Kost, G. J.; Verity, M. A. (1980). "A new variant of late-onset myophosphorylase deficiency". Muscle & Nerve. 3 (3): 195–201. doi:10.1002/mus.880030302. ISSN 0148-639X. PMID 6929403.
DiMauro, S.; Hartlage, P. L. (November 1978). "Fatal infantile form of muscle phosphorylase deficiency". Neurology. 28 (11): 1124–1129. doi:10.1212/wnl.28.11.1124. ISSN 0028-3878. PMID 101896.
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Rodríguez-Gómez, Irene; Santalla, Alfredo; Díez-Bermejo, Jorge; Munguía-Izquierdo, Diego; Alegre, Luis M.; Nogales-Gadea, Gisela; Arenas, Joaquin; Martín, Miguel Ángel; Lucía, Alejandro; Ara, Ignacio (January 2018). "A New Condition in McArdle Disease: Poor Bone Health—Benefits of an Active Lifestyle". Medicine & Science in Sports & Exercise. 50 (1): 3–10. doi:10.1249/MSS.0000000000001414. ISSN 0195-9131. PMID 29251685. S2CID 4414503.
Pietrusz, Aleksandra; Scalco, Renata S.; Quinlivan, Ros (2018). "Resistance Exercise Training in McArdle Disease: Myth or Reality?". Case Reports in Neurological Medicine. 2018: 9658251. doi:10.1155/2018/9658251. ISSN 2090-6668. PMC 6186374. PMID 30363996Patient 1 had hypertrophy of calf, deltoid and bicep muscles before resistance training commenced, while living a sedentary lifestyle with an office job, walking short distances was difficult as was everyday tasks like vacuuming and cutting the grass. After four years of resistance training, pre-existing hypertrophy in deltoid muscles increased further and muscle bulk was gained in additional muscle groups (quadriceps, gluteus, pectoralis, and trapezius muscles).{{cite journal}}: CS1 maint: postscript (link)
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Scalco RS, Lucia A, Santalla A, Martinuzzi A, Vavla M, Reni G, et al. (November 2020). "Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)". Orphanet Journal of Rare Diseases. 15 (1): 330. doi:10.1186/s13023-020-01562-x. PMC 7687836. PMID 33234167.
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Brull A, de Luna N, Blanco-Grau A, Lucia A, Martin MA, Arenas J, et al. (June 2015). "Phenotype consequences of myophosphorylase dysfunction: insights from the McArdle mouse model". The Journal of Physiology. 593 (12): 2693–2706. doi:10.1113/JP270085. PMC 4500353. PMID 25873271.
"UniProt: the universal protein knowledgebase". Nucleic Acids Research. 45 (D1): D158–D169. January 2017. doi:10.1093/nar/gkw1099. PMC 5210571. PMID 27899622.
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Quinlivan, Rosaline; Martinuzzi, Andrea; Schoser, Benedikt (2014-11-12). "Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V)". The Cochrane Database of Systematic Reviews. 2014 (11): CD003458. doi:10.1002/14651858.CD003458.pub5. ISSN 1469-493X. PMC 7173724. PMID 25391139.
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Mineo I, Tarui S (1995). "Myogenic hyperuricemia: what can we learn from metabolic myopathies?". Muscle & Nerve. Supplement. 3: S75–S81. doi:10.1002/mus.880181416. PMID 7603532. S2CID 41588282.
Triplet, Jacob J.; Goss, David A.; Taylor, Benjamin (September 2017). "Spontaneous Compartment Syndrome in a Patient with McArdle Disease: A Case Report and Review of the Literature". JBJS Case Connector. 7 (3): e49. doi:10.2106/JBJS.CC.16.00196. ISSN 2160-3251. PMID 29252879. S2CID 1883161.
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uniprot.org

"PYGM - Glycogen phosphorylase, muscle form - Homo sapiens (Human) - PYGM gene & protein". www.uniprot.org. Retrieved 2018-08-31. This article incorporates text available under the CC BY 4.0 license.

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Brian McArdle at Who Named It?

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Echaniz-Laguna, Andoni; Lornage, Xavière; Laforêt, Pascal; Orngreen, Mette C.; Edelweiss, Evelina; Brochier, Guy; Bui, Mai T.; Silva-Rojas, Roberto; Birck, Catherine; Lannes, Béatrice; Romero, Norma B.; Vissing, John; Laporte, Jocelyn; Böhm, Johann (August 2020). "A New Glycogen Storage Disease Caused by a Dominant PYGM Mutation". Annals of Neurology. 88 (2): 274–282. doi:10.1002/ana.25771. ISSN 0364-5134. PMID 32386344. S2CID 218572587.

worldcat.org

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