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MLIP-Associated Myopathy: A Case Report and Review of the Literature
Abstract
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.
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Mutations in Mlip are associated with myopathy and may play a role in myoblast differentiation.
“Mutations in Mlip have been associated with myopathy, with reports suggesting that it could play a role in myoblast differentiation (58).”
From Lipidome and proteome of astrocyte and microglia ApoE lipoprotein reveal differences based on cell type and ApoE isoform (2026) · cites this paper as [58]
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Research works printed but not linked: 11
- Torres, 2015, Rhabdomyolysis: Pathogenesis, diagnosis, and treatment, Ochsner J, 15, 58
- Nance, 2015, Diagnostic evaluation of rhabdomyolysis, Muscle Nerve, 51, 793, 10.1002/mus.24606 · DOI
- Scalco, 2015, Rhabdomyolysis: A genetic perspective, Orphanet J Rare Dis, 10, 51, 10.1186/s13023-015-0264-3 · DOI
- Ahmady, 1970, Identification of a novel muscle A-type lamin-interacting protein (MLIP), J Biol Chem, 286, 2, 10.1074/jbc.M110.165548 · DOI
- Cattin, 2669, Deletion of MLIP (muscle-enriched A-type lamin-interacting protein) leads to cardiac hyperactivation of Akt/mammalian target of rapamycin (mTOR) and impaired cardiac adaptation, J Biol Chem, 290, 9, 10.1074/jbc.M115.678433 · DOI
- Huang, 2012, CIP, a cardiac Isl1-interacting protein, represses cardiomyocyte hypertrophy, Circ Res, 110, 818, 10.1161/CIRCRESAHA.111.259663 · DOI
- Ahmady, 2021, Muscle Enriched Lamin Interacting Protein (Mlip) Binds Chromatin and Is Required for Myoblast Differentiation, Cells, 10, 615, 10.3390/cells10030615 · DOI
- Lopes Abath Neto, 2021, MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase, Brain, 144, 2722, 10.1093/brain/awab275 · DOI
- 10.1111/ene.15218 · DOI
- Cattin, 1976, Expression of murine muscle-enriched A-type lamin-interacting protein (MLIP) is regulated by tissue-specific alternative transcription start sites, Journal of Biological Chemistry, 293, 19761, 10.1074/jbc.RA118.003758 · DOI
- Liu, 1925, Regulation of myonuclear positioning and muscle function by the skeletal muscle-specific CIP protein, Proc Natl Acad Sci USA, 117, 19254, 10.1073/pnas.1922911117 · DOI
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Strickland, M. R., Wang, Z., Golden, L. R., Wang, H., Lu, P., Ren, Y., Tabor, G. T., Zhao, N., Ulrich, J. D., Han, X., et al. (2026) · Journal of Lipid Research · doi:10.1016/j.jlr.2026.101000 · Cited by 8
Metadata
- Authors
- Al Amrani, F., Al-Thihli, K., Narayanappa, G., & Al-Maawali, A.
- Affiliations
- Pediatric Neurology Unit, Department of Child Health, Sultan Qaboos University Hospital, Sultan Qaboos University, Oman
- Department of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University, Muscat, Sultanate of Oman, Oman
- Department of Neuropathology, National Institute of Mental Health and Neuroscience (NIMHANS), Bangalore, India
- Venue
- Journal of Neuromuscular Diseases
- Publisher
- SAGE Publications
- Published
- 2023-03-07
- Volume
- 10
- Issue
- 2
- Pages
- 293-299
- ISSN
- 2214-3599
- 2214-3602
- Cited by
- 2
- References
- 0
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