{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,6]],"date-time":"2026-06-06T07:20:05Z","timestamp":1780730405911,"version":"3.54.1"},"reference-count":18,"publisher":"BMJ","issue":"2","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Pract Neurol"],"accepted":{"date-parts":[[2025,7,1]]},"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:p>\n                    Congenital myasthenic syndromes (CMS) are a rare, heterogeneous group of disorders caused by pathogenic variants in genes encoding proteins essential for neuromuscular transmission.\n                    <jats:italic>DOK7<\/jats:italic>\n                    variants are among the most common causes of CMS and one of the subtypes that may worsen with pyridostigmine. We report two patients who presented in adulthood with fatigable limb girdle weakness, initially diagnosed with seronegative myasthenia gravis, who slowly progressed over time despite escalating treatment and eventually needed intensive care admission. Revisiting the history led to the diagnosis of DOK7 CMS. Both patients improved after stopping immunosuppressants and pyridostigmine and starting salbutamol. These cases highlight the importance of considering CMS in patients with seronegative myasthenia gravis.\n                  <\/jats:p>","DOI":"10.1136\/pn-2025-004528","type":"journal-article","created":{"date-parts":[[2025,7,22]],"date-time":"2025-07-22T19:00:18Z","timestamp":1753210818000},"page":"164-168","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["Myasthenic syndromes: mistaking genetic for acquired"],"prefix":"10.1136","volume":"26","author":[{"given":"Leighann","family":"Henehan","sequence":"first","affiliation":[{"name":"Department of Clinical Neurology, Neurology Department, John Radcliffe Hospital, Oxford, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Rossini","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Mental Health and Sensory Organs, University of Rome La Sapienza, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isobel Sarah","family":"Platt","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurology, Neuromuscular Service, The Royal London Hospital, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yin Yao","family":"Dong","sequence":"additional","affiliation":[{"name":"Neurosciences Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Beeson","sequence":"additional","affiliation":[{"name":"Neurosciences Group, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Geraint N","family":"Fuller","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurology, Gloucestershire Royal Hospital, Gloucester, 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