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AuthorLopes Abath Neto, Osorio
AuthorMedne, Livija
AuthorDonkervoort, Sandra
AuthorRodríguez-García, Maria Elena
AuthorBolduc, Véronique
AuthorHu, Ying
AuthorGuadagnin, Eleonora
AuthorFoley, A. Reghan
AuthorBrandsema, John F.
AuthorGlanzman, Allan M.
AuthorTennekoon, Gihan I.
AuthorSanti, Mariarita
AuthorBerger, Justin H.
AuthorMegeney, Lynn A.
AuthorKomaki, Hirofumi
AuthorInoue, Michio
AuthorCotrina-Vinagre, Francisco Javier
AuthorHernández-Lain, Aurelio
AuthorMartin-Hernández, Elena
AuthorWilliams, Linford
AuthorBorell, Sabine
AuthorSchorling, David
AuthorLin, Kimberly
AuthorKolokotronis, Konstantinos
AuthorLichter-Konecki, Uta
AuthorKirschner, Janbernd
AuthorNishino, Ichizo
AuthorBanwell, Brenda
AuthorMartínez-Azorín, Francisco
AuthorBurgon, Patrick G.
AuthorBönnemann, Carsten G.
Available date2022-03-13T08:34:31Z
Publication Date2021-09-01
Publication NameBrain
Identifierhttp://dx.doi.org/10.1093/brain/awab275
CitationOsorio Lopes Abath Neto, Livija Medne, Sandra Donkervoort, Maria Elena Rodríguez-García, Véronique Bolduc, Ying Hu, Eleonora Guadagnin, A Reghan Foley, John F Brandsema, Allan M Glanzman, Gihan I Tennekoon, Mariarita Santi, Justin H Berger, Lynn A Megeney, Hirofumi Komaki, Michio Inoue, Francisco Javier Cotrina-Vinagre, Aurelio Hernández-Lain, Elena Martin-Hernández, Linford Williams, Sabine Borell, David Schorling, Kimberly Lin, Konstantinos Kolokotronis, Uta Lichter-Konecki, Janbernd Kirschner, Ichizo Nishino, Brenda Banwell, Francisco Martínez-Azorín, Patrick G Burgon, Carsten G Bönnemann, MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase, Brain, Volume 144, Issue 9, September 2021, Pages 2722–2731, https://doi.org/10.1093/brain/awab275
ISSN00068950
URIhttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85119322555&origin=inward
URIhttp://hdl.handle.net/10576/28040
AbstractStriated 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' 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's role in normal and diseased skeletal muscle homeostasis.
Languageen
PublisherOxford University Press
Subjectcardiomyopathy
hyperCKemia
MLIP
myopathy
rhabdomyolysis
TitleMLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase
TypeArticle
Pagination2722-2731
Issue Number9
Volume Number144
ESSN1460-2156


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