{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,18]],"date-time":"2025-09-18T02:07:32Z","timestamp":1758161252422,"version":"3.44.0"},"reference-count":23,"publisher":"Mathematical Modelling and Numerical Simulation with Applications","issue":"04","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Congenital myopathies are an expanding spectrum of neuromuscular disorders with early infantile or childhood onset hypotonia and slowly or nonprogressive skeletal muscle weakness. RYR1-related myopathies are the most common and frequently diagnosed class of congenital myopathies. Malignant hyperthermia susceptibility and central core disease are autosomal dominant or de novo RYR1 disorder, whereas multiminicore, congenital fiber type disproportion and centronuclear myopathy are autosomal recessive RYR1 disorders. The presence of ptosis, ophthalmoparesis, facial, and proximal muscles weakness, with the presence of dusty cores and multiple internal nuclei on muscle biopsy are clues to the diagnosis. We describe an 18-year-old male, who presented with early infantile onset ptosis, ophthalmoplegia, myopathic facies, hanging lower jaw, and proximal muscle weakness confirmed as an RYR1-related congenital centronuclear myopathy on genetic analysis and muscle biopsy.<\/jats:p>","DOI":"10.1055\/s-0041-1731683","type":"journal-article","created":{"date-parts":[[2021,7,3]],"date-time":"2021-07-03T18:32:01Z","timestamp":1625337121000},"page":"318-324","source":"Crossref","is-referenced-by-count":0,"title":["Marked Facial Weakness, Ptosis, and Hanging Jaw: A Case with RYR1-Related Congenital Centronuclear Myopathy"],"prefix":"10.53391","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6909-1500","authenticated-orcid":false,"given":"Bhanudeep","family":"Singanamalla","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shivan","family":"Kesavan","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Divya","family":"Aggarwal","sequence":"additional","affiliation":[{"name":"Department of Histopathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Debajyoti","family":"Chatterjee","sequence":"additional","affiliation":[{"name":"Department of Histopathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andoni","family":"Urtizberea","sequence":"additional","affiliation":[{"name":"Institut de Myologie, La Salpetriere Hospital, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renu","family":"Suthar","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"31409","published-online":{"date-parts":[[2021,7,3]]},"reference":[{"issue":"04","key":"ref1","doi-asserted-by":"crossref","first-page":"662","DOI":"10.1002\/ana.22510","article-title":"Prevalence of congenital myopathies in a representative pediatric united states population","volume":"70","author":"K Amburgey","year":"2011","journal-title":"Ann Neurol"},{"issue":"06","key":"ref2","doi-asserted-by":"crossref","first-page":"981","DOI":"10.1002\/humu.22056","article-title":"Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies","volume":"33","author":"A Klein","year":"2012","journal-title":"Hum Mutat"},{"issue":"10","key":"ref3","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1038\/ejhg.2012.91","article-title":"Clinical utility gene card for: Centronuclear and myotubular myopathies","volume":"20","author":"V Biancalana","year":"2012","journal-title":"Eur J Hum Genet"},{"issue":"05","key":"ref4","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1002\/ana.22119","article-title":"RYR1 mutations are a common cause of congenital myopathies with central nuclei","volume":"68","author":"J M Wilmshurst","year":"2010","journal-title":"Ann Neurol"},{"issue":"12","key":"ref5","doi-asserted-by":"crossref","first-page":"1930","DOI":"10.1212\/01.wnl.0000188870.37076.f2","article-title":"Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene","volume":"65","author":"H Jungbluth","year":"2005","journal-title":"Neurology"},{"issue":"04","key":"ref6","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1016\/j.nmd.2007.01.016","article-title":"Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene","volume":"17","author":"H Jungbluth","year":"2007","journal-title":"Neuromuscul Disord"},{"issue":"01","key":"ref7","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1001\/archneur.1966.00470070005001","article-title":"Myotubular myopathy. 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