{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T10:40:20Z","timestamp":1756291220627,"version":"3.44.0"},"reference-count":17,"publisher":"BMJ","issue":"9","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2023,9,5]]},"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:p>A boy presented with cough, breathlessness for 1 month, fever for 1 week with similar previous episodes without hospitalisation. He had generalised muscle wasting, acute chronic malnutrition and required immediate ventilation. Provisional diagnosis of recurrent pneumonia with failure to thrive was made. As serial chest X-rays showed recurrent lung collapse, congenital lung anomalies were ruled out. 2D-echocardiography showed pulmonary arterial hypertension. Workup for congenital immunodeficiency and cystic fibrosis was negative. There was no improvement in muscle mass despite total parenteral nutrition. He was noticed to have myopathic facies. History was reviewed when the mother reported reduced fetal movements in this pregnancy. The patient had low voice amplitude. Creatine kinase levels were normal. Muscle biopsy followed by whole exome sequencing identified frameshift duplication NM_020451.3(SELENON):c.249_250dupGG (p.Asp84Glyfs*17), thus, confirming diagnosis of SEPN1-related congenital myopathy (CM) with fibre-type disproportion. Respiratory system involvement was distracter, emphasising consideration of CM while evaluating persistent lung collapse with muscle wasting.<\/jats:p>","DOI":"10.1136\/bcr-2023-255502","type":"journal-article","created":{"date-parts":[[2023,9,22]],"date-time":"2023-09-22T11:15:16Z","timestamp":1695381316000},"page":"e255502","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Congenital myopathy presenting as recurrent pneumonia with lung collapse and pulmonary artery hypertension"],"prefix":"10.1136","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7700-2336","authenticated-orcid":false,"given":"Anand","family":"Vardhan","sequence":"first","affiliation":[{"name":"Pediatrics, King George Medical College, Lucknow, Uttar Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7122-7216","authenticated-orcid":false,"given":"Devina","family":"Singh","sequence":"additional","affiliation":[{"name":"Pediatrics, King George Medical College, Lucknow, Uttar Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0805-7370","authenticated-orcid":false,"given":"Shalini","family":"Tripathi","sequence":"additional","affiliation":[{"name":"Pediatrics, King George Medical College, Lucknow, Uttar Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mala","family":"Kumar","sequence":"additional","affiliation":[{"name":"Pediatrics, King George Medical College, Lucknow, Uttar Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Atin","family":"Singhai","sequence":"additional","affiliation":[{"name":"Pathology, King George Medical College, Lucknow, Uttar Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2023,9,22]]},"reference":[{"key":"2025082703131970000_16.9.e255502.1","doi-asserted-by":"crossref","first-page":"1322","DOI":"10.2214\/AJR.15.14301","article-title":"Main pulmonary artery to ascending aorta diameter ratio in healthy children on MDCT","volume":"205","author":"Compton","year":"2015","journal-title":"AJR Am J Roentgenol"},{"key":"2025082703131970000_16.9.e255502.2","doi-asserted-by":"crossref","first-page":"977","DOI":"10.1093\/jnen\/62.10.977","article-title":"Congenital fiber type disproportion: 30 years on","volume":"62","author":"Clarke","year":"2003","journal-title":"J Neuropathol Exp Neurol"},{"key":"2025082703131970000_16.9.e255502.3","doi-asserted-by":"publisher","DOI":"10.1016\/j.spen.2011.10.008"},{"key":"2025082703131970000_16.9.e255502.4","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1016\/j.nmd.2011.02.015","article-title":"Congenital fibre type disproportion--a syndrome at the crossroads of the congenital Myopathies","volume":"21","author":"Clarke","year":"2011","journal-title":"Neuromuscul Disord"},{"key":"2025082703131970000_16.9.e255502.5","doi-asserted-by":"publisher","DOI":"10.1016\/j.spen.2011.10.005"},{"key":"2025082703131970000_16.9.e255502.6","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(01)00213-3"},{"key":"2025082703131970000_16.9.e255502.7","doi-asserted-by":"crossref","first-page":"281","DOI":"10.3349\/ymj.2000.41.2.281","article-title":"Muscle fiber type disproportion with an autosomal dominant inheritance","volume":"41","author":"Kim","year":"2000","journal-title":"Yonsei Med J"},{"key":"2025082703131970000_16.9.e255502.8","unstructured":"Goebel HH . 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