{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,15]],"date-time":"2026-04-15T15:21:35Z","timestamp":1776266495024,"version":"3.50.1"},"reference-count":22,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2017,4,10]],"date-time":"2017-04-10T00:00:00Z","timestamp":1491782400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2017,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Patients with <jats:italic>anoctamin\u20105<\/jats:italic> (<jats:italic>ANO5<\/jats:italic>) mutations may present not only with limb\u2010girdle muscular dystrophy type 2L or adult\u2010onset Miyoshi\u2010type myopathy but also with asymptomatic hyperCKemia, exercise intolerance, or rhabdomyolysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Materials and Methods<\/jats:title><jats:p>Data from 38 patients in France with <jats:italic>ANO5<\/jats:italic> mutations with and without muscle weakness on first examination were compared.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Twenty patients presented without muscle weakness. Median age at symptom onset or discovery of hyperCKemia was 23 years. Creatine kinase levels ranged from 200 to 40,000 U\/L. Electromyography showed a myopathic pattern in 5 patients, and muscle imaging showed involvement of posterior calf muscles in 10 patients. Mild cardiac involvement was observed in 2 patients. Sixteen patients remain free of weakness after a median follow\u2010up period of 5 years.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>Asymptomatic, sometimes mild hyperCKemia or exercise intolerance is a presentation of ANO5\u2010related myopathy and may remain isolated or precede muscle weakness by many years. <jats:italic>Muscle Nerve<\/jats:italic> <jats:bold>56<\/jats:bold>: 1096\u20131100, 2017<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.25608","type":"journal-article","created":{"date-parts":[[2017,2,10]],"date-time":"2017-02-10T23:16:40Z","timestamp":1486768600000},"page":"1096-1100","source":"Crossref","is-referenced-by-count":38,"title":["Hyperckemia and myalgia are common presentations of anoctamin\u20105\u2010related myopathy in French patients"],"prefix":"10.1002","volume":"56","author":[{"given":"Constantinos","family":"Papadopoulos","sequence":"first","affiliation":[{"name":"APHP, Centre de R\u00e9f\u00e9rence de Pathologie Neuromusculaire Paris\u2010Est, Institut de Myologie, GH Piti\u00e9\u2010Salp\u00eatri\u00e8re 47\u201083 Boulevard de l'H\u00f4pital, 75013 Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pascal","family":"Lafor\u00cat","sequence":"additional","affiliation":[{"name":"APHP, Centre de R\u00e9f\u00e9rence de Pathologie Neuromusculaire Paris\u2010Est, Institut de Myologie, GH Piti\u00e9\u2010Salp\u00eatri\u00e8re 47\u201083 Boulevard de l'H\u00f4pital, 75013 Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juliette","family":"Nectoux","sequence":"additional","affiliation":[{"name":"APHP, Service de Biochimie et G\u00e9n\u00e9tique Mol\u00e9culaire, Cochin Hospital Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tanya","family":"Stojkovic","sequence":"additional","affiliation":[{"name":"APHP, Centre de R\u00e9f\u00e9rence de Pathologie Neuromusculaire Paris\u2010Est, Institut de Myologie, GH Piti\u00e9\u2010Salp\u00eatri\u00e8re 47\u201083 Boulevard de l'H\u00f4pital, 75013 Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karim","family":"Wahbi","sequence":"additional","affiliation":[{"name":"APHP, Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospital, Myology Institute Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert\u2010Yves","family":"Carlier","sequence":"additional","affiliation":[{"name":"Radiological Unit, Teaching Hospital R. 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