{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,2]],"date-time":"2026-11-02T17:07:30Z","timestamp":1793639250004,"version":"4.5.1"},"reference-count":41,"publisher":"Oxford University Press (OUP)","issue":"7","license":[{"start":{"date-parts":[[2020,6,12]],"date-time":"2020-06-12T00:00:00Z","timestamp":1591920000000},"content-version":"vor","delay-in-days":1,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"NIH","award":["U54, NS053672"],"award-info":[{"award-number":["U54, NS053672"]}]},{"name":"Iowa Wellstone Muscular Dystrophy Cooperative Research Center"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,7,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Competence in muscle biopsy evaluation is a core component of neuropathology practice. The practicing neuropathologist should be able to prepare frozen sections of muscle biopsies with minimal artifacts and identify key histopathologic features of neuromuscular disease in hematoxylin and eosin-stained sections as well as implement and interpret a basic panel of additional histochemical, enzyme histochemical, and immunohistochemical stains. Important to everyday practice is a working knowledge of normal muscle histology at different ages, muscle motor units, pitfalls of myotendinous junctions, nonpathologic variations encountered at traditional and nontraditional muscle sites, the pathophysiology of myonecrosis and regeneration, and approaches to distinguish muscular dystrophies from inflammatory myopathies and other necrotizing myopathies. Here, we provide a brief overview of what every neuropathologist needs to know concerning the muscle biopsy.<\/jats:p>","DOI":"10.1093\/jnen\/nlaa046","type":"journal-article","created":{"date-parts":[[2020,6,11]],"date-time":"2020-06-11T20:34:21Z","timestamp":1591907661000},"page":"719-733","source":"Crossref","is-referenced-by-count":54,"title":["What Every Neuropathologist Needs to Know: The Muscle Biopsy"],"prefix":"10.1093","volume":"79","author":[{"given":"James S","family":"Nix","sequence":"first","affiliation":[{"name":"Department of Pathology, Johns Hopkins University School of Medicine , Baltimore, Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6353-7900","authenticated-orcid":false,"given":"Steven A","family":"Moore","sequence":"additional","affiliation":[{"name":"Department of Pathology, Carver College of Medicine, The University of Iowa , Iowa City, Iowa"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2020,6,11]]},"reference":[{"key":"2024032523331738800_nlaa046-B1","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1007\/s00415-011-6193-8","article-title":"Muscle biopsy","volume":"259","author":"Meola","year":"2012","journal-title":"J Neurol"},{"key":"2024032523331738800_nlaa046-B2","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1016\/j.pmr.2012.06.006","article-title":"Muscle biopsy evaluation in neuromuscular disorders","volume":"23","author":"Joyce","year":"2012","journal-title":"Phys Med Rehabil Clin N Am"},{"key":"2024032523331738800_nlaa046-B3","first-page":"e51586","article-title":"Tissue triage and freezing for models of skeletal muscle disease","author":"Meng","year":"2014","journal-title":"J Vis Exp"},{"key":"2024032523331738800_nlaa046-B4","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1177\/088307389100600407","article-title":"Muscle biopsy and the clinical course of infantile spinal muscular atrophy","volume":"6","author":"Zalneraitis","year":"1991","journal-title":"J Child Neurol"},{"key":"2024032523331738800_nlaa046-B5","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1002\/mus.24497","article-title":"Spinal muscular atrophy: Diagnosis and management in a new therapeutic era","volume":"51","author":"Arnold","year":"2015","journal-title":"Muscle Nerve"},{"key":"2024032523331738800_nlaa046-B6","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1001\/archneurol.2011.74","article-title":"Spinal muscular atrophy: A timely review","volume":"68","author":"Kolb","year":"2011","journal-title":"Arch Neurol"},{"key":"2024032523331738800_nlaa046-B7","doi-asserted-by":"crossref","first-page":"858","DOI":"10.1016\/j.ajhg.2018.03.011","article-title":"Variants in EXOSC9 disrupt the RNA exosome and result in cerebellar atrophy with spinal motor neuronopathy","volume":"102","author":"Burns","year":"2018","journal-title":"Am J Hum Genet"},{"key":"2024032523331738800_nlaa046-B8","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1016\/j.jaut.2013.11.005","article-title":"The clinical features, diagnosis and classification of dermatomyositis","volume":"48\u201349","author":"Iaccarino","year":"2014","journal-title":"J Autoimmun"},{"key":"2024032523331738800_nlaa046-B9","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1016\/S0140-6736(03)14368-1","article-title":"Polymyositis and dermatomyositis","volume":"362","author":"Dalakas","year":"2003","journal-title":"Lancet"},{"key":"2024032523331738800_nlaa046-B10","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1111\/nan.12380","article-title":"Integrated classification of inflammatory myopathies","volume":"43","author":"Allenbach","year":"2017","journal-title":"Neuropathol Appl Neurobiol"},{"key":"2024032523331738800_nlaa046-B11","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1038\/s41584-019-0186-x","article-title":"Inclusion body myositis: Clinical features and pathogenesis","volume":"15","author":"Greenberg","year":"2019","journal-title":"Nat Rev Rheumatol"},{"key":"2024032523331738800_nlaa046-B12","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1055\/s-0032-1329197","article-title":"Inclusion body myositis","volume":"32","author":"Dimachkie","year":"2012","journal-title":"Semin Neurol"},{"key":"2024032523331738800_nlaa046-B13","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1016\/0049-0172(87)90008-4","article-title":"Myopathy in sarcoidosis: Clinical and pathologic study of four cases and review of the literature","volume":"16","author":"Wolfe","year":"1987","journal-title":"Semin Arthritis Rheum"},{"key":"2024032523331738800_nlaa046-B14","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1001\/archneur.1969.00480150025002","article-title":"Muscle involvement in sarcoidosis: Asymptomatic, myositis, and myopathy","volume":"21","author":"Silverstein","year":"1969","journal-title":"Arch Neurol"},{"key":"2024032523331738800_nlaa046-B15","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1016\/j.spen.2011.10.006","article-title":"Centronuclear myopathies","volume":"18","author":"Romero","year":"2011","journal-title":"Semin Pediatr Neurol"},{"key":"2024032523331738800_nlaa046-B16","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1186\/1750-1172-2-25","article-title":"Central core disease","volume":"2","author":"Jungbluth","year":"2007","journal-title":"Orphanet J Rare Dis"},{"key":"2024032523331738800_nlaa046-B17","doi-asserted-by":"crossref","first-page":"930","DOI":"10.1016\/S0960-8966(02)00135-9","article-title":"The spectrum of pathology in central core disease","volume":"12","author":"Sewry","year":"2002","journal-title":"Neuromuscul Disord"},{"key":"2024032523331738800_nlaa046-B18","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1111\/nan.12587","article-title":"Review: Danon disease: Review of natural history and recent advances","volume":"46","author":"Cenacchi","year":"2020","journal-title":"Neuropathol Appl Neurobiol"},{"key":"2024032523331738800_nlaa046-B19","doi-asserted-by":"crossref","first-page":"1773","DOI":"10.1212\/WNL.58.12.1773","article-title":"Clinicopathological features of genetically confirmed Danon disease","volume":"58","author":"Sugie","year":"2002","journal-title":"Neurology"},{"key":"2024032523331738800_nlaa046-B20","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1016\/j.ncl.2014.04.010","article-title":"Pompe disease: Literature review and case series","volume":"32","author":"Dasouki","year":"2014","journal-title":"Neurol Clin"},{"key":"2024032523331738800_nlaa046-B21","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1186\/2051-5960-2-2","article-title":"The value of muscle biopsies in Pompe disease: Identifying lipofuscin inclusions in juvenile- and adult-onset patients","volume":"2","author":"Feeney","year":"2014","journal-title":"Acta Neuropathol Commun"},{"key":"2024032523331738800_nlaa046-B22","doi-asserted-by":"crossref","first-page":"4","DOI":"10.3109\/07853890.2011.605389","article-title":"Diagnosis and treatment of mitochondrial myopathies","volume":"45","author":"Pfeffer","year":"2013","journal-title":"Ann Med"},{"key":"2024032523331738800_nlaa046-B23","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1007\/s11910-010-0154-y","article-title":"Lipid storage myopathy","volume":"11","author":"Liang","year":"2011","journal-title":"Curr Neurol Neurosci Rep"},{"key":"2024032523331738800_nlaa046-B24","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1097\/WCO.0b013e32830dd5a6","article-title":"Lipid storage myopathies","volume":"21","author":"Bruno","year":"2008","journal-title":"Curr Opin Neurol"},{"key":"2024032523331738800_nlaa046-B25","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1016\/j.autrev.2014.12.004","article-title":"Churg-Strauss syndrome","volume":"14","author":"Greco","year":"2015","journal-title":"Autoimmun Rev"},{"key":"2024032523331738800_nlaa046-B26","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1097\/01.jnen.0000200151.60142.25","article-title":"Neuro-muscular biopsy in Churg-Strauss syndrome: 24 cases","volume":"65","author":"Vital","year":"2006","journal-title":"J Neuropathol Exp Neurol"},{"key":"2024032523331738800_nlaa046-B27","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1186\/1750-1172-7-54","article-title":"AL amyloidosis","volume":"7","author":"Desport","year":"2012","journal-title":"Orphanet J Rare Dis"},{"key":"2024032523331738800_nlaa046-B28","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1136\/jnnp.60.6.655","article-title":"Myopathy in primary systemic amyloidosis","volume":"60","author":"Gertz","year":"1996","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"2024032523331738800_nlaa046-B29","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1128\/CMR.00026-08","article-title":"Epidemiology, diagnosis, treatment, and control of trichinellosis","volume":"22","author":"Gottstein","year":"2009","journal-title":"CMR"},{"key":"2024032523331738800_nlaa046-B30","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.1002\/cphy.c140068","article-title":"Satellite cells and skeletal muscle regeneration","volume":"5","author":"Dumont","year":"2015","journal-title":"Compr Physiol"},{"key":"2024032523331738800_nlaa046-B31","doi-asserted-by":"crossref","first-page":"1223","DOI":"10.1002\/cphy.c140048","article-title":"The dystrophin complex: Structure, function, and implications for therapy","volume":"5","author":"Gao","year":"2015","journal-title":"Compr Physiol"},{"key":"2024032523331738800_nlaa046-B32","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1016\/S1474-4422(03)00585-4","article-title":"Dystrophin and mutations: One gene, several proteins, multiple phenotypes","volume":"2","author":"Muntoni","year":"2003","journal-title":"Lancet Neurol"},{"key":"2024032523331738800_nlaa046-B33","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1136\/jmedgenet-2015-103387","article-title":"The importance of genetic diagnosis for Duchenne muscular dystrophy","volume":"53","author":"Aartsma-Rus","year":"2016","journal-title":"J Med Genet"},{"key":"2024032523331738800_nlaa046-B34","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1002\/mus.26083","article-title":"Dystrophinopathy muscle biopsies in the genetic testing ERA: One center\u2019s data","volume":"58","author":"Carlson","year":"2018","journal-title":"Muscle Nerve"},{"key":"2024032523331738800_nlaa046-B35","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1016\/j.ncl.2014.05.002","article-title":"Duchenne and Becker muscular dystrophies","volume":"32","author":"Flanigan","year":"2014","journal-title":"Neurol Clin"},{"key":"2024032523331738800_nlaa046-B36","doi-asserted-by":"crossref","first-page":"934","DOI":"10.1002\/humu.20976","article-title":"Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: A model of nationwide knowledgebase","volume":"30","author":"Tuffery-Giraud","year":"2009","journal-title":"Hum Mutat"},{"key":"2024032523331738800_nlaa046-B37","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1093\/jnen\/nlv020","article-title":"Skeletal muscle pathology in X-linked myotubular myopathy: Review with cross-species comparisons","volume":"75","author":"Lawlor","year":"2016","journal-title":"J Neuropathol Exp Neurol"},{"key":"2024032523331738800_nlaa046-B38","doi-asserted-by":"crossref","first-page":"9632","DOI":"10.1073\/pnas.1001517107","article-title":"Disease-causing missense mutations in actin binding domain 1 of dystrophin induce thermodynamic instability and protein aggregation","volume":"107","author":"Henderson","year":"2010","journal-title":"Proc Natl Acad Sci"},{"key":"2024032523331738800_nlaa046-B39","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1097\/BOR.0b013e32834bab42","article-title":"Acquired immune and inflammatory myopathies: Pathologic classification","volume":"23","author":"Pestronk","year":"2011","journal-title":"Curr Opin Rheumatol"},{"key":"2024032523331738800_nlaa046-B40","first-page":"704","article-title":"Classification of idiopathic inflammatory myopathies: Pathology perspectives","volume":"32","author":"Tanboon","year":"2019","journal-title":"Curr Opin Rheumatol"},{"key":"2024032523331738800_nlaa046-B41","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1007\/s11926-018-0732-6","article-title":"Immune-mediated necrotizing myopathy","volume":"20","author":"Pinal-Fernandez","year":"2018","journal-title":"Curr Rheumatol Rep"}],"container-title":["Journal of Neuropathology &amp; Experimental Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jnen\/article-pdf\/79\/7\/719\/33408695\/nlaa046.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jnen\/article-pdf\/79\/7\/719\/33408695\/nlaa046.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,25]],"date-time":"2024-03-25T19:49:08Z","timestamp":1711396148000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jnen\/article\/79\/7\/719\/5856236"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,6,11]]},"references-count":41,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2020,6,11]]},"published-print":{"date-parts":[[2020,7,1]]}},"URL":"https:\/\/doi.org\/10.1093\/jnen\/nlaa046","relation":{},"ISSN":["0022-3069","1554-6578"],"issn-type":[{"value":"0022-3069","type":"print"},{"value":"1554-6578","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2020,7]]},"published":{"date-parts":[[2020,6,11]]}}}