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Today we know that this disorder, commonly known as \u2018McArdle disease\u2019, is caused by inherited deficiency of the muscle isoform of <jats:italic>glycogen phosphorylase<\/jats:italic> (GP). Here we review the main aspects of the \u2018pathogenomics\u2019 of this disease including, among others: the spectrum of mutations in the gene (<jats:italic>PYGM<\/jats:italic>) encoding muscle GP; the interplay between the different tissue GP isoforms in cellular cultures and in patients; what can we learn from naturally occurring and recently laboratory\u2010generated animal models of the disease; and potential therapies.<\/jats:p>","DOI":"10.1007\/s10545-014-9743-2","type":"journal-article","created":{"date-parts":[[2014,7,22]],"date-time":"2014-07-22T12:55:39Z","timestamp":1406033739000},"page":"221-230","update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":24,"title":["The pathogenomics of McArdle disease\u2014genes, enzymes, models, and therapeutic implications"],"prefix":"10.1002","volume":"38","author":[{"given":"Gisela","family":"Nogales\u2010Gadea","sequence":"first","affiliation":[{"name":"Neuromuscular Diseases Unit, Institut de Recerca del Hospital de la Santa Creu i Sant Pau Universitat Aut\u00f3noma de Barcelona Av. Maria Claret 167 Barcelona 08025 Spain"},{"name":"Department of Neuroscience, School for Mental Health and Neuroscience Maastricht University Maastricht The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alfredo","family":"Santalla","sequence":"additional","affiliation":[{"name":"Universidad Pablo de Olavide Sevilla Spain"},{"name":"Instituto de Investigaci\u00f3n Hospital 12 de Octubre (i+12) Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Astrid","family":"Brull","sequence":"additional","affiliation":[{"name":"Departament de Patologia Mitocondrial i Neuromuscular, Hospital Universitari Vall d'Hebron, Institut de Recerca (VHIR) Universitat Aut\u00f3noma de Barcelona Barcelona Spain"},{"name":"Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noemi","family":"de Luna","sequence":"additional","affiliation":[{"name":"Departament de Patologia Mitocondrial i Neuromuscular, Hospital Universitari Vall d'Hebron, Institut de Recerca (VHIR) Universitat Aut\u00f3noma de Barcelona Barcelona Spain"},{"name":"Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alejandro","family":"Lucia","sequence":"additional","affiliation":[{"name":"Instituto de Investigaci\u00f3n Hospital 12 de Octubre (i+12) Madrid Spain"},{"name":"Universidad Europea Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tom\u00e0s","family":"Pin\u00f3s","sequence":"additional","affiliation":[{"name":"Departament de Patologia Mitocondrial i Neuromuscular, Hospital Universitari Vall d'Hebron, Institut de Recerca (VHIR) Universitat Aut\u00f3noma de Barcelona Barcelona Spain"},{"name":"Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,7,23]]},"reference":[{"key":"e_1_2_20_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.2008.146548"},{"key":"e_1_2_20_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.65.6.786"},{"key":"e_1_2_20_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880180710"},{"key":"e_1_2_20_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2006.12.014"},{"key":"e_1_2_20_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/2.8.1291"},{"key":"e_1_2_20_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0925-4439(94)90047-7"},{"key":"e_1_2_20_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.gt.3302211"},{"key":"e_1_2_20_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molmed.2012.09.008"},{"key":"e_1_2_20_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2012.06.348"},{"key":"e_1_2_20_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02834242"},{"key":"e_1_2_20_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880060307"},{"key":"e_1_2_20_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9434"},{"key":"e_1_2_20_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/0304-4165(86)90122-4"},{"issue":"6","key":"e_1_2_20_15_1","first-page":"748","article-title":"Depot\u2010glucagon in the treatment of McArdle's disease","volume":"15","author":"Day TJ","year":"1985","journal-title":"Aust N Z J Med"},{"key":"e_1_2_20_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10262"},{"key":"e_1_2_20_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-006-0447-x"},{"issue":"1","key":"e_1_2_20_18_1","first-page":"35","article-title":"Muscle glycogenoses: an overview","volume":"26","author":"Di Mauro S","year":"2007","journal-title":"Acta Myol"},{"key":"e_1_2_20_19_1","first-page":"112","article-title":"McArdle disease: the mysterious appearance of phosphorylase activity in cells that ought to lack the genetic program. 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