{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T07:17:08Z","timestamp":1790234228023,"version":"4.1.0"},"reference-count":28,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2012,6]]},"abstract":"<jats:sec>\n            <jats:title>Abstract<\/jats:title>\n            <jats:p>Camptocormia is a debilitating gait disorder characterized by the hyperflexion of the thoracolumbar spine during the upright position. Its etiologies are heterogenous, including parkinsonism and various neuromuscular disorders. Here, we report a camptocormia patient due to a late-onset axial myopathy with numerous lobulated fibers. The patient's father reportedly had similar symptoms. Myriad lobulated fibers are common among patients with an autosomal recessive muscular dystrophy due to calpain-3 gene (<jats:italic toggle=\"yes\">CAPN3<\/jats:italic>) mutations or calpainopathy. <jats:italic toggle=\"yes\">CAPN3<\/jats:italic> sequencing revealed a single c.759-761delGAA mutation. Calpainopathy carriers are generally asymptomatic. The presence of lobulated fibers in this patient suggests that camptocormia could be a manifestation of calpainopathy carrier, although the possibility of a coexisting undiagnosed myopathy cannot be excluded. The current patient should spur the evaluation of camptocormia among calpainopathy carriers.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1097\/cnd.0b013e3182461a9c","type":"journal-article","created":{"date-parts":[[2012,5,23]],"date-time":"2012-05-23T11:50:46Z","timestamp":1337773846000},"page":"209-213","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":21,"title":["Late-Onset Axial Myopathy and Camptocormia in a Calpainopathy Carrier"],"prefix":"10.1097","volume":"13","author":[{"given":"Teerin","family":"Liewluck","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brent P.","family":"Goodman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-5-20240808","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1001\/archneur.1977.00500140073016","article-title":"Rigid spine syndrome. A type I fiber myopathy.","volume":"34","author":"Seay","year":"1977","journal-title":"Arch Neurol"},{"key":"R2-5-20240808","doi-asserted-by":"crossref","first-page":"730","DOI":"10.1007\/s00415-002-0701-9","article-title":". Axial myopathyan unrecognised entity.","volume":"249","author":"Mahjneh","year":"2002","journal-title":"J Neurol"},{"key":"R3-5-20240808","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1212\/01.wnl.0000171857.09079.9f","article-title":"Camptocormia: pathogenesis, classification, and response to therapy.","volume":"65","author":"Azher","year":"2005","journal-title":"Neurology"},{"key":"R5-5-20240808","doi-asserted-by":"crossref","first-page":"542","DOI":"10.1002\/mds.22780","article-title":". Camptocormia in idiopathic Parkinsons disease: a focal myopathy of the paravertebral muscles.","volume":"25","author":"Margraf","year":"2010","journal-title":"Mov Disord"},{"key":"R6-5-20240808","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1097\/00006842-194705000-00005","article-title":"Camptocormia or the functional bent back.","volume":"9","author":"Sandler","year":"1947","journal-title":"Psychosom Med"},{"key":"R7-5-20240808","doi-asserted-by":"crossref","first-page":"1059","DOI":"10.1002\/mus.21403","article-title":". Camptocormia as a presentation of generalized inflammatory myopathy.","volume":"40","author":"Kuo","year":"2009","journal-title":"Muscle Nerve"},{"key":"R8-5-20240808","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1016\/j.nmd.2009.02.005","article-title":". Late-onset axial myopathy with cores due to a novel heterozygous dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene.","volume":"19","author":"Jungbluth","year":"2009","journal-title":"Neuromuscul Disord"},{"issue":"Suppl 2","key":"R9-5-20240808","doi-asserted-by":"crossref","first-page":"S87","DOI":"10.1007\/s00586-009-1086-6","article-title":". Painful camptocormia: the relevance of shaking your patients hand.","volume":"19","author":"Dupeyron","year":"2010","journal-title":"Eur Spine J"},{"key":"R10-5-20240808","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1002\/mus.21722","article-title":". Facioscapulohumeral muscular dystrophy presenting with isolated axial myopathy and bent spine syndrome.","volume":"42","author":"Kottlors","year":"2010","journal-title":"Muscle Nerve"},{"key":"R11-5-20240808","doi-asserted-by":"crossref","first-page":"866","DOI":"10.1007\/s00415-010-5858-z","article-title":". Camptocormia phenotype of FSHD: a clinical and MRI study on six patients.","volume":"258","author":"Jordan","year":"2010","journal-title":"J Neurol"},{"key":"R12-5-20240808","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1016\/j.jbspin.2010.05.012","article-title":"Bent spine syndrome (camptocormia): a retrospective study of 63 patients.","volume":"77","author":"Laroche","year":"2010","journal-title":"Joint Bone Spine"},{"key":"R14-5-20240808","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1007\/s00401-011-0818-y","article-title":". A new phenotype of mitochondrial disease characterized by familial late-onset predominant axial myopathy and encephalopathy.","volume":"121","author":"Sakiyama","year":"2011","journal-title":"Acta Neuropathol"},{"key":"R15-5-20240808","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1097\/CND.0b013e3181d4a515","article-title":". Isolated neck extensor myopathy: is it responsive to immunotherapy.","volume":"12","author":"Muppidi","year":"2010","journal-title":"J Clin Neuromuscul Dis"},{"key":"R16-5-20240808","doi-asserted-by":"crossref","first-page":"732","DOI":"10.1093\/brain\/awh408","article-title":". LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.","volume":"128","author":"Saenz","year":"2005","journal-title":"Brain"},{"key":"R17-5-20240808","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1002\/ana.20833","article-title":". CAPN3 mutations in patients with idiopathic eosinophilic myositis.","volume":"59","author":"Krahn","year":"2006","journal-title":"Ann Neurol"},{"key":"R18-5-20240808","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1016\/j.nmd.2010.04.006","article-title":". Calpainopathy presenting as foot drop in a 41 year old.","volume":"20","author":"Burke","year":"2010","journal-title":"Neuromuscul Disord"},{"key":"R19-5-20240808","doi-asserted-by":"crossref","first-page":"651","DOI":"10.5692\/clinicalneurol.48.651","article-title":". Case of LGMD2A (calpainopathy) clinically presenting as Miyoshi distal myopathy in Japanese.","volume":"48","author":"Shirafuji","year":"2008","journal-title":"Rinsho Shinkeigaku"},{"key":"R21-5-20240808","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1016\/S0960-8966(01)00197-3","article-title":". Calpain 3 gene mutations: genetic and clinico-pathologic findings in limb-girdle muscular dystrophy.","volume":"11","author":"Chae","year":"2001","journal-title":"Neuromuscul Disord"},{"key":"R22-5-20240808","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1016\/j.nmd.2009.05.005","article-title":". Immunohistochemical analysis of calpain 3: advantages and limitations in diagnosing LGMD2A.","volume":"19","author":"Charlton","year":"2009","journal-title":"Neuromuscul Disord"},{"key":"R23-5-20240808","doi-asserted-by":"crossref","first-page":"1472","DOI":"10.1212\/WNL.56.11.1472","article-title":"The earliest pathologic alterations in dysferlinopathy.","volume":"56","author":"Selcen","year":"2001","journal-title":"Neurology"},{"key":"R24-5-20240808","doi-asserted-by":"crossref","first-page":"1524","DOI":"10.1086\/302426","article-title":". Calpainopathya survey of mutations and polymorphisms.","volume":"64","author":"Richard","year":"1999","journal-title":"Am J Hum Genet"},{"key":"R25-5-20240808","doi-asserted-by":"crossref","first-page":"3237","DOI":"10.1093\/brain\/awm259","article-title":". Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.","volume":"130","author":"Groen","year":"2007","journal-title":"Brain"},{"key":"R26-5-20240808","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1002\/mds.22909","article-title":"Backpack treatment for camptocormia.","volume":"25","author":"Gerton","year":"2010","journal-title":"Mov Disord"},{"key":"R27-5-20240808","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1016\/S0960-8966(01)00245-0","article-title":". Myopathy with lobulated muscle fibers: evidence for heterogeneous etiology and clinical presentation.","volume":"12","author":"Figarella-Branger","year":"2002","journal-title":"Neuromuscul Disord"},{"key":"R29-5-20240808","doi-asserted-by":"crossref","first-page":"995","DOI":"10.1097\/01.jnen.0000235854.77716.6c","article-title":". 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How to tackle the diagnosis of limb-girdle muscular dystrophy 2A.","volume":"17","author":"Fanin","year":"2009","journal-title":"Eur J Hum Genet"},{"key":"R31-5-20240808","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1136\/jmg.2006.044859","article-title":"Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations.","volume":"44","author":"Fanin","year":"2007","journal-title":"J Med Genet"},{"key":"R32-5-20240808","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1016\/j.nmd.2011.06.1116","article-title":"Dominant inheritance of limb girdle muscular dystrophy type 2A abstract.","volume":"21","author":"Vissing","year":"2011","journal-title":"Neuromuscul Disord"}],"container-title":["Journal of Clinical Neuromuscular Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.lww.com\/00131402-201206000-00005","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,8,8]],"date-time":"2024-08-08T23:22:41Z","timestamp":1723159361000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.lww.com\/00131402-201206000-00005"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,6]]},"references-count":28,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2012]]}},"URL":"https:\/\/doi.org\/10.1097\/cnd.0b013e3182461a9c","relation":{},"ISSN":["1522-0443"],"issn-type":[{"value":"1522-0443","type":"print"}],"subject":[],"published":{"date-parts":[[2012,6]]}}}