{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T16:45:35Z","timestamp":1791909935154,"version":"4.3.4"},"reference-count":44,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2021,9,22]],"date-time":"2021-09-22T00:00:00Z","timestamp":1632268800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["206619_Z_17_Z"],"award-info":[{"award-number":["206619_Z_17_Z"]}],"id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2021,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>McArdle disease is caused by recessive mutations in <jats:italic>PYGM<\/jats:italic> gene. The condition is considered to cause a \u201cpure\u201d muscle phenotype with symptoms including exercise intolerance, inability to perform isometric activities, contracture, and acute rhabdomyolysis leading to acute renal failure. This is a retrospective observational study aiming to describe phenotypic and genotypic features of a large cohort of patients with McArdle disease between 2011 and 2019. Data relating to genotype and phenotype, including frequency of rhabdomyolysis, fixed muscle weakness, gout and comorbidities, inclusive of retinal disease (pattern retinal dystrophy) and thyroid disease, were collected. Data from 197 patients are presented. Seven previously unpublished <jats:italic>PYGM<\/jats:italic> mutations are described. Exercise intolerance (100%) and episodic rhabdomyolysis (75.6%) were the most common symptoms. Fixed muscle weakness was present in 82 (41.6%) subjects. Unexpectedly, ptosis was observed in 28 patients (14.2%). Hyperuricaemia was a common finding present in 88 subjects (44.7%), complicated by gout in 25% of cases. Thyroid dysfunction was described in 30 subjects (15.2%), and in 3 cases, papillary thyroid cancer was observed. Pattern retinal dystrophy was detected in 15 out of the 41 subjects that underwent an ophthalmic assessment (36.6%). In addition to fixed muscle weakness, ptosis was a relatively common finding. Surprisingly, dysfunction of thyroid and retinal abnormalities were relatively frequent comorbidities. Further studies are needed to better clarify this association, although our finding may have important implication for patient management.<\/jats:p>","DOI":"10.1002\/jimd.12438","type":"journal-article","created":{"date-parts":[[2021,9,17]],"date-time":"2021-09-17T16:05:00Z","timestamp":1631894700000},"page":"1409-1418","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":24,"title":["Phenotype and genotype of 197 British patients with <scp>McArdle<\/scp> disease: An observational single\u2010centre study"],"prefix":"10.1002","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5519-0313","authenticated-orcid":false,"given":"Chiara","family":"Pizzamiglio","sequence":"first","affiliation":[{"name":"Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1254-0832","authenticated-orcid":false,"given":"Omar A.","family":"Mahroo","sequence":"additional","affiliation":[{"name":"Institute of Ophthalmology University College London  London UK"},{"name":"Moorfields Eye Hospital  London UK"},{"name":"Section of Ophthalmology King's College London, St Thomas' Hospital Campus  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kamron N.","family":"Khan","sequence":"additional","affiliation":[{"name":"Leeds Centre for Ophthalmology, Leeds Teaching Hospitals NHS Trust  Leeds UK"},{"name":"Department of Ophthalmology, Calderdale and Huddersfield NHS Trust  Huddersfield UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Patasin","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosaline","family":"Quinlivan","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,9,22]]},"reference":[{"issue":"1","key":"e_1_2_12_2_1","first-page":"13","article-title":"Myopathy due to a defect in muscle glycogen breakdown","volume":"10","author":"McArdle B","year":"1951","journal-title":"Clin 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