{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T16:34:22Z","timestamp":1792427662953,"version":"4.5.0"},"reference-count":44,"publisher":"Oxford University Press (OUP)","issue":"9","license":[{"start":{"date-parts":[[2023,3,13]],"date-time":"2023-03-13T00:00:00Z","timestamp":1678665600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,9,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Anoctamin-5 related muscle disease is caused by biallelic pathogenic variants in the anoctamin-5 gene (ANO5) and shows variable clinical phenotypes: limb-girdle muscular dystrophy type 12 (LGMD-R12), distal muscular dystrophy type 3 (MMD3), pseudometabolic myopathy or asymptomatic hyperCKaemia.<\/jats:p>\n               <jats:p>In this retrospective, observational, multicentre study we gathered a large European cohort of patients with ANO5-related muscle disease to study the clinical and genetic spectrum and genotype\u2013phenotype correlations.<\/jats:p>\n               <jats:p>We included 234 patients from 212 different families, contributed by 15 centres from 11 European countries. The largest subgroup was LGMD-R12 (52.6%), followed by pseudometabolic myopathy (20.5%), asymptomatic hyperCKaemia (13.7%) and MMD3 (13.2%). In all subgroups, there was a male predominance, except for pseudometabolic myopathy. Median age at symptom onset of all patients was 33 years (range 23\u201345 years). The most frequent symptoms at onset were myalgia (35.3%) and exercise intolerance (34.1%), while at last clinical evaluation most frequent symptoms and signs were proximal lower limb weakness (56.9%) and atrophy (38.1%), myalgia (45.1%) and atrophy of the medial gastrocnemius muscle (38.4%). Most patients remained ambulatory (79.4%). At last evaluation, 45.9% of patients with LGMD-R12 additionally had distal weakness in the lower limbs and 48.4% of patients with MMD3 also showed proximal lower limb weakness. Age at symptom onset did not differ significantly between males and females. However, males had a higher risk of using walking aids earlier (P = 0.035). No significant association was identified between sportive versus non-sportive lifestyle before symptom onset and age at symptom onset nor any of the motor outcomes. Cardiac and respiratory involvement that would require treatment occurred very rarely. Ninety-nine different pathogenic variants were identified in ANO5 of which 25 were novel. The most frequent variants were c.191dupA (p.Asn64Lysfs*15) (57.7%) and c.2272C&amp;gt;T (p.Arg758Cys) (11.1%). Patients with two loss-of function variants used walking aids at a significantly earlier age (P = 0.037). Patients homozygous for the c.2272C&amp;gt;T variant showed a later use of walking aids compared to patients with other variants (P = 0.043).<\/jats:p>\n               <jats:p>We conclude that there was no correlation of the clinical phenotype with the specific genetic variants, and that LGMD-R12 and MMD3 predominantly affect males who have a significantly worse motor outcome. Our study provides useful information for clinical follow up of the patients and for the design of clinical trials with novel therapeutic agents.<\/jats:p>","DOI":"10.1093\/brain\/awad088","type":"journal-article","created":{"date-parts":[[2023,3,13]],"date-time":"2023-03-13T19:33:47Z","timestamp":1678736027000},"page":"3800-3815","source":"Crossref","is-referenced-by-count":11,"title":["Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort"],"prefix":"10.1093","volume":"146","author":[{"given":"Alexander","family":"de Bruyn","sequence":"first","affiliation":[{"name":"Department of Neurology, University Hospitals Leuven , 3000 Leuven , Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7291-5408","authenticated-orcid":false,"given":"Federica","family":"Montagnese","sequence":"additional","affiliation":[{"name":"Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University of Munich , 80336 Munich , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonja","family":"Holm-Yildiz","sequence":"additional","affiliation":[{"name":"Copenhagen Neuromuscular Center (CNMC), Rigshospitalet, University of Copenhagen , 2100 Copenhagen , Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nanna","family":"Scharff Poulsen","sequence":"additional","affiliation":[{"name":"Copenhagen Neuromuscular Center (CNMC), Rigshospitalet, University of Copenhagen , 2100 Copenhagen , Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4054-2838","authenticated-orcid":false,"given":"Tanya","family":"Stojkovic","sequence":"additional","affiliation":[{"name":"Reference Center for Neuromuscular Disorders Nord\/Est\/\u00cele-de-France, Sorbonne Universit\u00e9, AP-HP, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re , 75013 Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony","family":"Behin","sequence":"additional","affiliation":[{"name":"Reference Center for Neuromuscular Disorders Nord\/Est\/\u00cele-de-France, Sorbonne Universit\u00e9, AP-HP, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re , 75013 Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanna","family":"Palmio","sequence":"additional","affiliation":[{"name":"Neuromuscular Center, Department of Neurology, Tampere University Hospital , 33520 Tampere , Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manu","family":"Jokela","sequence":"additional","affiliation":[{"name":"Neuromuscular Center, Department of Neurology, Tampere University Hospital , 33520 Tampere , Finland"},{"name":"Neurocenter, Department of Neurology, Clinical Neurosciences, Turku University Hospital and University of Turku , 20014 Turku , Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan L","family":"De Bleecker","sequence":"additional","affiliation":[{"name":"Department of Neurology, University Hospital Gent , 9000 Gent , Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianne","family":"de Visser","sequence":"additional","affiliation":[{"name":"Department of Neurology, Amsterdam University Medical Centers, Location AMC, Neuroscience Institute, University of Amsterdam , 1107 AZ Amsterdam , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anneke J","family":"van der Kooi","sequence":"additional","affiliation":[{"name":"Department of Neurology, Amsterdam University Medical Centers, Location AMC, Neuroscience Institute, University of Amsterdam , 1107 AZ Amsterdam , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leroy","family":"ten Dam","sequence":"additional","affiliation":[{"name":"Department of Neurology, Amsterdam University Medical Centers, Location AMC, Neuroscience Institute, University of Amsterdam , 1107 AZ Amsterdam , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Dom\u00ednguez Gonz\u00e1lez","sequence":"additional","affiliation":[{"name":"Reference Center for Rare Neuromuscular Disorders, imas12 Research Institute, Hospital Universitario 12 de Octubre, Biomedical Network Research Center on Rare Diseases (CIBERER), Instituto de Salud Carlos III , 28041 Madrid , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorenzo","family":"Maggi","sequence":"additional","affiliation":[{"name":"Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico \u201cCarlo Besta\u201d , 20133 Milan , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annamaria","family":"Gallone","sequence":"additional","affiliation":[{"name":"Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico \u201cCarlo Besta\u201d , 20133 Milan , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Kostera-Pruszczyk","sequence":"additional","affiliation":[{"name":"Department of Neurology, Medical University of Warsaw , 02-091 Warsaw , Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Macias","sequence":"additional","affiliation":[{"name":"Department of Neurology, Medical University of Warsaw , 02-091 Warsaw , Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"\u0141usakowska","sequence":"additional","affiliation":[{"name":"Department of Neurology, Medical University of Warsaw , 02-091 Warsaw , Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Velina","family":"Nedkova","sequence":"additional","affiliation":[{"name":"Department of Neurology, Bellvitge Hospital , 08041 Barcelona , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Montse","family":"Olive","sequence":"additional","affiliation":[{"name":"Neuromuscular Disorders Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau and Biomedical Research Institute Sant Pau (IIB Sat Pau) , 08041 Barcelona , Spain"},{"name":"Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III , 28001 Madrid , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rodrigo","family":"\u00c1lvarez-Velasco","sequence":"additional","affiliation":[{"name":"Neuromuscular Disorders Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau and Biomedical Research Institute Sant Pau (IIB Sat Pau) , 08041 Barcelona , Spain"},{"name":"Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III , 28001 Madrid , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Wanschitz","sequence":"additional","affiliation":[{"name":"Department of Neurology, Medical University of Innsbruck , 6020 Innsbruck , Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen","family":"Paradas","sequence":"additional","affiliation":[{"name":"Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Roc\u00edo\/CSIC\/Universidad de Sevilla , 41013 Sevilla , Spain"},{"name":"Centro Investigacion Biomedica en Red Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III , 41013 Sevilla , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabiola","family":"Mavillard","sequence":"additional","affiliation":[{"name":"Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Roc\u00edo\/CSIC\/Universidad de Sevilla , 41013 Sevilla , Spain"},{"name":"Centro Investigacion Biomedica en Red Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III , 41013 Sevilla , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giorgia","family":"Querin","sequence":"additional","affiliation":[{"name":"Institut de Myologie, I-Motion Adult ClinicalTrials Platform, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re , 75013 Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gorka","family":"Fern\u00e1ndez-Eulate","sequence":"additional","affiliation":[{"name":"Reference Center for Neuromuscular Disorders Nord\/Est\/\u00cele-de-France, Sorbonne Universit\u00e9, AP-HP, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re , 75013 Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ros","family":"Quinlivan","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology , WC1N 3BG London , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maggie C","family":"Walter","sequence":"additional","affiliation":[{"name":"Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University of Munich , 80336 Munich , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christophe E","family":"Depuydt","sequence":"additional","affiliation":[{"name":"Laboratory for Muscle Diseases and Neuropathies, Department of Neurosciences, KU Leuven, and Leuven Brain Institute (LBI) , 3000 Leuven , Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bjarne","family":"Udd","sequence":"additional","affiliation":[{"name":"Neuromuscular Center, Department of Neurology, Tampere University Hospital , 33520 Tampere , Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Vissing","sequence":"additional","affiliation":[{"name":"Copenhagen Neuromuscular Center (CNMC), Rigshospitalet, University of 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