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dc.contributor.authorLawlor, Michael W.en_US
dc.contributor.authorBeggs, Alan H.en_US
dc.contributor.authorBuj-Bello, Anaen_US
dc.contributor.authorChilders, Martin K.en_US
dc.contributor.authorDowling, James J.en_US
dc.contributor.authorJames, Emma S.en_US
dc.contributor.authorMeng, Huien_US
dc.contributor.authorMoore, Steven A.en_US
dc.contributor.authorPrasad, Suyashen_US
dc.contributor.authorSchoser, Benedikten_US
dc.contributor.authorSewry, Caroline A.en_US
dc.date.accessioned2016-08-09T14:52:44Z
dc.date.issued2016en_US
dc.identifier.citationLawlor, M. W., A. H. Beggs, A. Buj-Bello, M. K. Childers, J. J. Dowling, E. S. James, H. Meng, et al. 2016. “Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons.” Journal of Neuropathology and Experimental Neurology 75 (2): 102-110. doi:10.1093/jnen/nlv020. http://dx.doi.org/10.1093/jnen/nlv020.en
dc.identifier.issn0022-3069en
dc.identifier.urihttp://nrs.harvard.edu/urn-3:HUL.InstRepos:27822180
dc.description.abstractX-linked myotubular myopathy (XLMTM) is a devastating, rare, congenital myopathy caused by mutations in the MTM1 gene, resulting in a lack of or dysfunction of the enzyme myotubularin. This leads to severe perinatal weakness and distinctive muscle pathology. It was originally thought that XLMTM was related to developmental arrest in myotube maturation; however, the generation and characterization of several animal models have significantly improved our understanding of clinical and pathological aspects of this disorder. Myotubularin is now known to participate in numerous cellular processes including endosomal trafficking, excitation-contraction coupling, cytoskeletal organization, neuromuscular junction structure, autophagy, and satellite cell proliferation and survival. The available vertebrate models of XLMTM, which vary in severity from complete absence to reduced functional levels of myotubularin, recapitulate features of the human disease to a variable extent. Understanding how pathological endpoints in animals with XLMTM translate to human patients will be essential to interpret preclinical treatment trials and translate therapies into human clinical studies. This review summarizes the published animal models of XLMTM, including those of zebrafish, mice, and dogs, with a focus on their pathological features as compared to those seen in human XLMTM patients.en
dc.language.isoen_USen
dc.publisherOxford University Pressen
dc.relation.isversionofdoi:10.1093/jnen/nlv020en
dc.relation.hasversionhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC4765322/pdf/en
dash.licenseLAAen_US
dc.subjectCongenitalen
dc.subjectCentronuclearen
dc.subjectHypotrophyen
dc.subjectMyopathyen
dc.subjectMyotubularen
dc.subjectMyotubularinen
dc.subjectSarcotubular.en
dc.titleSkeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisonsen
dc.typeJournal Articleen_US
dc.description.versionVersion of Recorden
dc.relation.journalJournal of Neuropathology and Experimental Neurologyen
dash.depositing.authorBeggs, Alan H.en_US
dc.date.available2016-08-09T14:52:44Z
dc.identifier.doi10.1093/jnen/nlv020*
dash.authorsorderedfalse
dash.contributor.affiliatedBeggs, Alan


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