{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T04:30:51Z","timestamp":1784867451689,"version":"3.55.0"},"reference-count":17,"publisher":"Oxford University Press (OUP)","issue":"9","funder":[{"DOI":"10.13039\/100000065","name":"NIH National Institute of Neurological Disorders and Stroke","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Spanish Instituto de Salud Carlos III"},{"DOI":"10.13039\/501100008530","name":"European Regional Development Fund","doi-asserted-by":"publisher","award":["PI17\/00487"],"award-info":[{"award-number":["PI17\/00487"]}],"id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Instituto de Investigaci\u00f3n Hospital 12 de Octubre"},{"DOI":"10.13039\/501100004587","name":"ISCIII","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008530","name":"ERDF","doi-asserted-by":"publisher","award":["PI17\/00487"],"award-info":[{"award-number":["PI17\/00487"]}],"id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["MOP119470"],"award-info":[{"award-number":["MOP119470"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,10,22]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Striated muscle needs to maintain cellular homeostasis in adaptation to increases in physiological and metabolic demands. Failure to do so can result in rhabdomyolysis. The identification of novel genetic conditions associated with rhabdomyolysis helps to shed light on hitherto unrecognized homeostatic mechanisms. Here we report seven individuals in six families from different ethnic backgrounds with biallelic variants in MLIP, which encodes the muscular lamin A\/C-interacting protein, MLIP. Patients presented with a consistent phenotype characterized by mild muscle weakness, exercise-induced muscle pain, variable susceptibility to episodes of rhabdomyolysis, and persistent basal elevated serum creatine kinase levels. The biallelic truncating variants were predicted to result in disruption of the nuclear localizing signal of MLIP. Additionally, reduced overall RNA expression levels of the predominant MLIP isoform were observed in patients\u2019 skeletal muscle. Collectively, our data increase the understanding of the genetic landscape of rhabdomyolysis to now include MLIP as a novel disease gene in humans and solidifies MLIP\u2019s role in normal and diseased skeletal muscle homeostasis.<\/jats:p>","DOI":"10.1093\/brain\/awab275","type":"journal-article","created":{"date-parts":[[2021,9,22]],"date-time":"2021-09-22T19:18:26Z","timestamp":1632338306000},"page":"2722-2731","source":"Crossref","is-referenced-by-count":20,"title":["<i>MLIP<\/i> causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated\u00a0 serum creatine kinase"],"prefix":"10.1093","volume":"144","author":[{"given":"Osorio","family":"Lopes Abath Neto","sequence":"first","affiliation":[{"name":"Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA"},{"name":"Department of Pathology, Division of Neuropathology, University of Pittsburgh Medical Center, Pittsburgh, PA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Livija","family":"Medne","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Donkervoort","sequence":"additional","affiliation":[{"name":"Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Elena","family":"Rodr\u00edguez-Garc\u00eda","sequence":"additional","affiliation":[{"name":"Grupo de Enfermedades Raras, Mitocondriales y Neuromusculares (ERMN), Instituto de Investigaci\u00f3n Hospital 12 de Octubre, Madrid, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V\u00e9ronique","family":"Bolduc","sequence":"additional","affiliation":[{"name":"Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Hu","sequence":"additional","affiliation":[{"name":"Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleonora","family":"Guadagnin","sequence":"additional","affiliation":[{"name":"Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A Reghan","family":"Foley","sequence":"additional","affiliation":[{"name":"Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John F","family":"Brandsema","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allan M","family":"Glanzman","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gihan I","family":"Tennekoon","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariarita","family":"Santi","sequence":"additional","affiliation":[{"name":"Department of Pathology, The Children\u2019s Hospital of Philadelphia, Philadelphia, PA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1454-0097","authenticated-orcid":false,"given":"Justin H","family":"Berger","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Children\u2019s Hospital of Philadelphia, Philadelphia, PA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lynn A","family":"Megeney","sequence":"additional","affiliation":[{"name":"Ottawa Hospital Research Institute, Ottawa ON, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirofumi","family":"Komaki","sequence":"additional","affiliation":[{"name":"National Center of Neurology and Psychiatry, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michio","family":"Inoue","sequence":"additional","affiliation":[{"name":"National Center of Neurology and Psychiatry, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisco Javier","family":"Cotrina-Vinagre","sequence":"additional","affiliation":[{"name":"Grupo de Enfermedades Raras, Mitocondriales y Neuromusculares (ERMN), Instituto de Investigaci\u00f3n Hospital 12 de Octubre, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aurelio","family":"Hern\u00e1ndez-Lain","sequence":"additional","affiliation":[{"name":"Servicio de Anatom\u00eda Patol\u00f3gica (Neuropatolog\u00eda), Hospital 12 de Octubre, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Martin-Hern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Madrid, Spain"},{"name":"Unidad Pedi\u00e1trica de Enfermedades Raras, Enfermedades Mitocondriales y Metab\u00f3licas Hereditarias, Hospital 12 de Octubre, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linford","family":"Williams","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Children\u2019s Hospital of Pittsburgh, Pittsburgh, PA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine","family":"Borell","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Schorling","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimberly","family":"Lin","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Children\u2019s Hospital of Philadelphia, Philadelphia, PA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8840-6026","authenticated-orcid":false,"given":"Konstantinos","family":"Kolokotronis","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Biocenter, Julius-Maximilians-University W\u00fcrzburg, W\u00fcrzburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Uta","family":"Lichter-Konecki","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Children\u2019s Hospital of Pittsburgh, Pittsburgh, PA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janbernd","family":"Kirschner","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Germany"},{"name":"Department of Neuropediatrics, University Hospital Bonn, Faculty of Medicine, Bonn, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ichizo","family":"Nishino","sequence":"additional","affiliation":[{"name":"National Center of Neurology and Psychiatry, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brenda","family":"Banwell","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisco","family":"Mart\u00ednez-Azor\u00edn","sequence":"additional","affiliation":[{"name":"Grupo de Enfermedades Raras, Mitocondriales y Neuromusculares (ERMN), Instituto de Investigaci\u00f3n Hospital 12 de Octubre, Madrid, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4771-023X","authenticated-orcid":false,"given":"Patrick G","family":"Burgon","sequence":"additional","affiliation":[{"name":"Department of Chemistry and Earth Science, College of Arts and Sciences, Qatar University, Qatar"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carsten G","family":"B\u00f6nnemann","sequence":"additional","affiliation":[{"name":"Neuromuscular and Neurogenetic 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