{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T04:30:55Z","timestamp":1784867455129,"version":"3.55.0"},"reference-count":11,"publisher":"SAGE Publications","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JND"],"published-print":{"date-parts":[[2023,3,7]]},"abstract":"<jats:p>Background: Muscular A-type lamin-interacting protein (MLIP) has a regulatory role in myoblast differentiation and organization of myonuclear positioning in skeletal muscle. It is ubiquitously expressed but abundantly in cardiac, skeletal, and smooth muscles. Recently, two studies confirmed the causation of biallelic pathogenic variants in the MLIP gene of a novel myopathy phenotype. Objective: Description of the phenotypic spectrum and features of MLIP-related myopathy. Methods: report a patient with biallelic variants in MLIP gene with the clinical features, and histomorphological findings of MLIP-related myopathy and provide a literature review of the previously reported 12 patients. Results: MLIP-related myopathy is characterized by episodes of rhabdomyolysis, myalgia triggered by mild to moderate exercise, mild muscle weakness, and sometimes cardiac involvement characterized by cardiomyopathy and cardiac rhythm abnormalities. Conclusions: This report reviews and extends the clinical features of a novel myopathy caused by biallelic pathogenic variants in the MLIP gene.<\/jats:p>","DOI":"10.3233\/jnd-221520","type":"journal-article","created":{"date-parts":[[2023,1,13]],"date-time":"2023-01-13T12:23:32Z","timestamp":1673612612000},"page":"293-299","source":"Crossref","is-referenced-by-count":2,"title":["MLIP-Associated Myopathy: A Case Report and Review of the Literature"],"prefix":"10.1177","volume":"10","author":[{"given":"Fatema","family":"Al Amrani","sequence":"first","affiliation":[{"name":"Pediatric Neurology Unit, Department of Child Health, Sultan Qaboos University Hospital, Sultan Qaboos University, Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khalid","family":"Al-Thihli","sequence":"additional","affiliation":[{"name":"Department of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University, Muscat, Sultanate of Oman, Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gayathri","family":"Narayanappa","sequence":"additional","affiliation":[{"name":"Department of Neuropathology, National Institute of Mental Health and Neuroscience (NIMHANS), Bangalore, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Almundher","family":"Al-Maawali","sequence":"additional","affiliation":[{"name":"Department of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University, Muscat, Sultanate of Oman, Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","reference":[{"issue":"1","key":"10.3233\/JND-221520_ref1","first-page":"58","article-title":"Rhabdomyolysis: Pathogenesis, diagnosis, and treatment","volume":"15","author":"Torres","year":"2015","journal-title":"Ochsner J"},{"issue":"6","key":"10.3233\/JND-221520_ref2","doi-asserted-by":"publisher","first-page":"793","DOI":"10.1002\/mus.24606","article-title":"Diagnostic evaluation of 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adaptation","volume":"290","author":"Cattin","year":"2669","journal-title":"J Biol Chem"},{"issue":"6","key":"10.3233\/JND-221520_ref6","doi-asserted-by":"publisher","first-page":"818","DOI":"10.1161\/CIRCRESAHA.111.259663","article-title":"CIP, a cardiac Isl1-interacting protein, represses cardiomyocyte hypertrophy","volume":"110","author":"Huang","year":"2012","journal-title":"Circ Res"},{"issue":"3","key":"10.3233\/JND-221520_ref7","doi-asserted-by":"publisher","first-page":"615","DOI":"10.3390\/cells10030615","article-title":"Muscle Enriched Lamin Interacting Protein (Mlip) Binds Chromatin and Is Required for Myoblast Differentiation","volume":"10","author":"Ahmady","year":"2021","journal-title":"Cells"},{"issue":"9","key":"10.3233\/JND-221520_ref8","doi-asserted-by":"publisher","first-page":"2722","DOI":"10.1093\/brain\/awab275","article-title":"MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase","volume":"144","author":"Lopes 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