{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,30]],"date-time":"2026-05-30T00:07:05Z","timestamp":1780099625953,"version":"3.54.0"},"reference-count":0,"publisher":"Pakistan Medical Association","issue":"07","license":[{"start":{"date-parts":[[2025,7,1]],"date-time":"2025-07-01T00:00:00Z","timestamp":1751328000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pak Med Assoc"],"abstract":"<jats:p>A 13-month-old girl, diagnosed with congenital\u00a0myasthenic\u00a0syndrome due to CHRNE and GMPPB mutation, presented with involuntary movement of muscles and ptosis along with lethargy, having a poor response to Pyridostigmine and improved symptoms with Salbutamol. This case report highlights the significance of genetic testing and the clinical response to Salbutamol, emphasising its potential role in the continued treatment of CMS and providing a more economical and feasible therapeutic approach.\nKeywords: Congenital myasthenia gravis, Pyridostigmine, Salbutamol, Ig A, Ig G.<\/jats:p>","DOI":"10.47391\/jpma.21352","type":"journal-article","created":{"date-parts":[[2025,7,2]],"date-time":"2025-07-02T15:44:27Z","timestamp":1751471067000},"page":"1158-1161","source":"Crossref","is-referenced-by-count":1,"title":["Salbutamol in the management of congenital myasthenic syndrome (CMS) and associated IgA and IgG Deficiency"],"prefix":"10.47391","volume":"75","author":[{"given":"Abia","family":"Abdullah","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sana","family":"Ashraf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"family":"Prem Chand","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"26547","published-online":{"date-parts":[[2025,7,1]]},"container-title":["Journal of the Pakistan Medical Association"],"original-title":[],"link":[{"URL":"https:\/\/jpma.org.pk\/index.php\/public_html\/article\/download\/21352\/4212","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/jpma.org.pk\/index.php\/public_html\/article\/download\/21352\/4212","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,7,3]],"date-time":"2025-07-03T15:44:26Z","timestamp":1751557466000},"score":1,"resource":{"primary":{"URL":"https:\/\/jpma.org.pk\/index.php\/public_html\/article\/view\/21352"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7,1]]},"references-count":0,"journal-issue":{"issue":"07","published-online":{"date-parts":[[2025,7,1]]}},"URL":"https:\/\/doi.org\/10.47391\/jpma.21352","relation":{},"ISSN":["0030-9982","0030-9982"],"issn-type":[{"value":"0030-9982","type":"electronic"},{"value":"0030-9982","type":"print"}],"subject":[],"published":{"date-parts":[[2025,7,1]]}}}