{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T20:56:36Z","timestamp":1791147396450,"version":"4.1.0"},"reference-count":54,"publisher":"American Physiological Society","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Physiological Genomics"],"published-print":{"date-parts":[[2005,8,11]]},"abstract":"<jats:p>The extraocular muscles (EOMs) are a unique group of specialized muscles that are anatomically and physiologically distinct from other skeletal muscles. Perhaps the most striking characteristic of the EOMs is their differential sensitivity to disease. EOMs are spared in Duchenne's muscular dystrophy (DMD) despite widespread involvement of other skeletal muscles. Conversely, they are early and prominent targets in myasthenia gravis and mitochondrial myopathies. It is unclear how EOMs achieve such specialization or a differential response to diseases; however, this has been attributed to a unique, group-specific pattern of gene expression or \u201callotype.\u201d To begin to address these issues as well as define the human EOM allotype, we analyzed the human EOM transcriptome using oligonucleotide-based expression profiling. Three hundred thirty-eight genes were found to be differentially expressed in EOM compared with quadriceps femoris limb muscle, using a twofold cutoff. Functional characterization revealed expression patterns corresponding to known metabolic and structural properties of EOMs such as expression of EOM-specific myosin heavy chain (MYH13) and high neural, vascular, and mitochondrial content, suggesting that the profiling was sensitive and specific. Genes related to myogenesis, stem cells, and apoptosis were detected at high levels in normal human EOMs, suggesting that efficient and continuous regeneration and\/or myogenesis may be a mechanism by which the EOMs remain clinically and pathologically spared in diseases such as DMD. Taken together, this study provides insight into how human EOMs achieve their unique structural, metabolic, and pathophysiological properties.<\/jats:p>","DOI":"10.1152\/physiolgenomics.00158.2004","type":"journal-article","created":{"date-parts":[[2005,4,27]],"date-time":"2005-04-27T03:18:26Z","timestamp":1114571906000},"page":"283-291","source":"Crossref","is-referenced-by-count":69,"title":["Definition of the unique human extraocular muscle allotype by expression profiling"],"prefix":"10.1152","volume":"22","author":[{"given":"M. Dominik","family":"Fischer","sequence":"first","affiliation":[{"name":"Department of Physiology and Pennsylvania Muscle Institute, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania"},{"name":"Fakult\u00e4t f\u00fcr Medizin, Universit\u00e4t Witten\/Herdecke, Witten, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Murat T.","family":"Budak","sequence":"additional","affiliation":[{"name":"Department of Physiology and Pennsylvania Muscle Institute, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Bakay","sequence":"additional","affiliation":[{"name":"Research Center for Genetic Medicine, Children's National Medical Center, George Washington University, Washington, District of Columbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. Rafael","family":"Gorospe","sequence":"additional","affiliation":[{"name":"Research Center for Genetic Medicine, Children's National Medical Center, George Washington University, Washington, District of Columbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Kjellgren","sequence":"additional","affiliation":[{"name":"Department of Integrative Medical Biology, Section of Anatomy and Department of Clinical Sciences, Ophthalmology, Ume\u00e5 University, Umea, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Pedrosa-Domell\u00f6f","sequence":"additional","affiliation":[{"name":"Department of Integrative Medical Biology, Section of Anatomy and Department of Clinical Sciences, Ophthalmology, Ume\u00e5 University, Umea, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric P.","family":"Hoffman","sequence":"additional","affiliation":[{"name":"Research Center for Genetic Medicine, Children's National Medical Center, George Washington University, Washington, District of Columbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tejvir S.","family":"Khurana","sequence":"additional","affiliation":[{"name":"Department of Physiology and Pennsylvania Muscle Institute, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"24","reference":[{"key":"R1","unstructured":"Asmussen G.The properties of the extraocular muscles of the frog. I. Mechanical properties of the isolated superior oblique and superior rectus muscles.Acta Biol Med Ger37: 301\u2013312, 1978."},{"key":"R2","doi-asserted-by":"publisher","DOI":"10.1085\/jgp.0491177"},{"key":"R3","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2105-3-4"},{"key":"R4","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.107.3.1099"},{"key":"R5","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.127.5.1275"},{"key":"R6","doi-asserted-by":"publisher","DOI":"10.1038\/nature01154"},{"key":"R7","unstructured":"Bron AJ, Tripathi RC, and Tripathi BJ.Wolff's Anatomy of the Eye and the Orbit. London: Chapman and Hall Medical, 1997."},{"key":"R8","doi-asserted-by":"publisher","DOI":"10.1007\/BF00240928"},{"key":"R9","unstructured":"Carry MRand Ringel SP.Structure and histochemistry of human extraocular muscle.Bull Soc Belge Ophtalmol237: 303\u2013319, 1989."},{"key":"R10","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880090510"},{"key":"R11","doi-asserted-by":"publisher","DOI":"10.1002\/ar.1092140103"},{"key":"R12","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.151.6.1321"},{"key":"R13","unstructured":"Engel AGand Franzini-Armstrong C.Myology. New York: McGraw-Hill, 2004."},{"key":"R14","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.2002.tb02808.x"},{"key":"R15","doi-asserted-by":"publisher","DOI":"10.1152\/physiolgenomics.00115.2001"},{"key":"R16","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.260501097"},{"key":"R17","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.192571199"},{"key":"R18","doi-asserted-by":"publisher","DOI":"10.1152\/jappl.2001.91.2.534"},{"key":"R19","unstructured":"Hoh JF.Muscle fiber types and function.Curr Opin Rheumatol4: 801\u2013808, 1992."},{"key":"R20","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2003.12.024"},{"key":"R21","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(74)90157-9"},{"key":"R22","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410320418"},{"key":"R23","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.2002.tb02807.x"},{"key":"R24","doi-asserted-by":"publisher","DOI":"10.1096\/fj.02-1108fje"},{"key":"R25","doi-asserted-by":"publisher","DOI":"10.1038\/nrd1085"},{"key":"R26","doi-asserted-by":"publisher","DOI":"10.1084\/jem.182.2.467"},{"key":"R27","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.03-0218"},{"key":"R28","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.02-0638"},{"key":"R29","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.04-0456"},{"key":"R30","doi-asserted-by":"publisher","DOI":"10.1016\/S0305-0491(00)00256-X"},{"key":"R31","unstructured":"Lucas CAand Hoh JF.Extraocular fast myosin heavy chain expression in the levator palpebrae and retractor bulbi muscles.Invest Ophthalmol Vis Sci38: 2817\u20132825, 1997."},{"key":"R32","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.1994.sp020074"},{"key":"R33","doi-asserted-by":"publisher","DOI":"10.1038\/360588a0"},{"key":"R34","doi-asserted-by":"publisher","DOI":"10.1016\/S0040-8166(71)80045-9"},{"key":"R35","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005656312518"},{"key":"R36","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20012"},{"key":"R37","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.02-0673"},{"key":"R38","doi-asserted-by":"publisher","DOI":"10.1002\/mus.10056"},{"key":"R39","unstructured":"McLoon LKand Wirtschafter J.Activated satellite cells are present in uninjured extraocular muscles of mature mice.Trans Am Ophthalmol Soc100: 119\u2013123; discussion 123\u2013114, 2002."},{"key":"R40","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1999.0179"},{"key":"R41","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-510X(00)00384-1"},{"key":"R42","unstructured":"Oh SY, Poukens V, Cohen ML, and Demer JL.Structure-function correlation of laminar vascularity in human rectus extraocular muscle.Invest Ophthalmol Vis Sci42: 17\u201322, 2001."},{"key":"R43","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(98)00015-7"},{"key":"R44","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.211257298"},{"key":"R45","doi-asserted-by":"crossref","unstructured":"Porter JD, Rafael JA, Ragusa RJ, Brueckner JK, Trickett JI, and Davies KE.The sparing of extraocular muscle in dystrophinopathy is lost in mice lacking utrophin and dystrophin.J Cell Sci111: 1801\u20131811, 1998.","DOI":"10.1242\/jcs.111.13.1801"},{"key":"R46","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(96)00066-4"},{"key":"R47","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1978.03910050587020"},{"key":"R48","unstructured":"Rubinstein NAand Hoh JF.The distribution of myosin heavy chain isoforms among rat extraocular muscle fiber types.Invest Ophthalmol Vis Sci41: 3391\u20133398, 2000."},{"key":"R49","doi-asserted-by":"publisher","DOI":"10.1016\/0006-8993(92)91010-C"},{"key":"R50","unstructured":"Spencer RFand Porter JD.Structural organization of the extraocular muscles.Rev Oculomot Res2: 33\u201379, 1988."},{"key":"R51","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.272.45.28590"},{"key":"R52","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.101.2.618"},{"key":"R53","doi-asserted-by":"publisher","DOI":"10.1097\/00041327-200403000-00013"},{"key":"R54","doi-asserted-by":"publisher","DOI":"10.1016\/0014-4886(69)90078-8"}],"container-title":["Physiological Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.physiology.org\/doi\/pdf\/10.1152\/physiolgenomics.00158.2004","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,7,9]],"date-time":"2021-07-09T21:44:36Z","timestamp":1625867076000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.physiology.org\/doi\/10.1152\/physiolgenomics.00158.2004"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,8,11]]},"references-count":54,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2005,8,11]]}},"alternative-id":["10.1152\/physiolgenomics.00158.2004"],"URL":"https:\/\/doi.org\/10.1152\/physiolgenomics.00158.2004","relation":{},"ISSN":["1094-8341","1531-2267"],"issn-type":[{"value":"1094-8341","type":"print"},{"value":"1531-2267","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,8,11]]}}}