{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T22:34:48Z","timestamp":1789079688951,"version":"build-2803163510"},"reference-count":49,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2024,11,1]],"date-time":"2024-11-01T00:00:00Z","timestamp":1730419200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2024,11,1]],"date-time":"2024-11-01T00:00:00Z","timestamp":1730419200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:p>\n                    Dysferlinopathy is a phenotypically heterogeneous, inherited, progressive muscular dystrophy caused by mutations in the\n                    <jats:italic>DYSF<\/jats:italic>\n                    gene. Dysferlinopathy is marked by elevated serum creatine kinase (CK) and can in some cases manifest as hyperCKemia in asymptomatic or low-symptom states. Here, we describe the clinical signs and symptoms and laboratory and imaging results with quantitative MRI analysis of eight pediatric patients at asymptomatic and oligosymptomatic states of dysferlinopathy (aged 3\u201314 years). Seven of them with a same homozygous mutation and one with a compound heterozygous mutation in the\n                    <jats:italic>DYSF<\/jats:italic>\n                    gene. Based on this case series, we propose two stages of dysferlinopathy disease progression. The first state is asymptomatic hyperCKemia laboratory syndrome of myocytolysis, which is marked by an increase in CK (&gt;1.5 times the upper limit of normal (ULN)) and lactic dehydrogenase (LDH). Second state (oligosymptomatic): increasing CK (2.7\u201312.6\u2009\u00d7\u2009ULN), LDH, alanine aminotransferase (ALT), and myoglobin; minimal or moderate signs of fatty muscle infiltration, displacement of the center of support to the back of the foot during plantography; slight afterload fatigue of the calf muscles; slight decrease in muscle strength (imperceptible to the patient) and decrease in Achilles reflexes. Taken together, isolated hyperCKemia (asymptomatic stage) and oligosymptomatic patients form a single continuum of pre-manifest cases.\n                  <\/jats:p>","DOI":"10.1177\/22143602241289227","type":"journal-article","created":{"date-parts":[[2024,12,8]],"date-time":"2024-12-08T16:45:26Z","timestamp":1733676326000},"page":"1283-1294","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":3,"title":["Asymptomatic and oligosymptomatic states of dysferlinopathy"],"prefix":"10.1177","volume":"11","author":[{"given":"Sergey N","family":"Bardakov","sequence":"first","affiliation":[{"name":"S.M. Kirov Military Medical Academy, St. Petersburg, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roman V","family":"Deev","sequence":"additional","affiliation":[{"name":"A.P. Avtsyn Research Institute of Human Morphology of Federal state budgetary scientific institution \u201cPetrovsky National Research Centre of Surgery\u201d, Ministry of Science and Higher Education of Russia, Moscow, Russia"},{"name":"Artgen Biotech PJSC, Moscow, Russia"},{"name":"Belgorod National Research University, Belgorod, Russiaxs"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vadim A","family":"Tsargush","sequence":"additional","affiliation":[{"name":"S.M. Kirov Military Medical Academy, St. Petersburg, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vladimir S","family":"Kaimonov","sequence":"additional","affiliation":[{"name":"Belgorod National Research University, Belgorod, Russiaxs"},{"name":"Genetico, Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizaveta V","family":"Musatova","sequence":"additional","affiliation":[{"name":"Belgorod National Research University, Belgorod, Russiaxs"},{"name":"Genetico, Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Konstantin A","family":"Blagodatskikh","sequence":"additional","affiliation":[{"name":"Belgorod National Research University, Belgorod, Russiaxs"},{"name":"Genetico, Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aleksandra A","family":"Tveleneva","sequence":"additional","affiliation":[{"name":"Belgorod National Research University, Belgorod, Russiaxs"},{"name":"Genetico, Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yana V","family":"Sofronova","sequence":"additional","affiliation":[{"name":"Belgorod National Research University, Belgorod, Russiaxs"},{"name":"Genetico, Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vasiliy M","family":"Suslov","sequence":"additional","affiliation":[{"name":"Saint-Petersburg State Pediatric Medical University, St. Petersburg, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre G","family":"Carlier","sequence":"additional","affiliation":[{"name":"Neuromuscular Disease Reference Center, University of Liege, and Department of Neurology, St. Luc University Hospital, Brussels, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sergey A","family":"Kurbatov","sequence":"additional","affiliation":[{"name":"Research Institute of Experimental Biology and Medicine, Voronezh N.N. Burdenko State Medical University, Voronezh, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivan A","family":"Yakovlev","sequence":"additional","affiliation":[{"name":"Artgen Biotech PJSC, Moscow, Russia"},{"name":"Genetico, Moscow, Russia"},{"name":"Genotarget LLC, Skolkovo Innovation Centre, Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zoya R","family":"Umakhanova","sequence":"additional","affiliation":[{"name":"Dagestan State Medical University, Makhachkala, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Artur A","family":"Isaev","sequence":"additional","affiliation":[{"name":"Artgen Biotech PJSC, Moscow, Russia"},{"name":"Genetico, Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2024,12,8]]},"reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/109.1.31"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.57.2.271"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature01573"},{"key":"e_1_3_2_5_2","first-page":"1097","article-title":"Disruptions of muscle fiber plasma membranes. 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Seattle, WA: University of Washington, 2004 [Updated 2021 May 27]."},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2008.09.015"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.3233\/JND-140038"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(200101)49:1<130::AID-ANA22>3.0.CO;2-0"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.64.8.1176"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/120.11.1989"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24036"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004150200010"},{"key":"e_1_3_2_14_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.55.12.1931"},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/119.6.1895"},{"key":"e_1_3_2_16_2","first-page":"77","article-title":"Twenty-year clinical progression of dysferlinopathy in patients from dagestan","volume":"8","author":"Umakhanova ZR","year":"2017","unstructured":"Umakhanova ZR, Bardakov SN, Mavlikeev MO, et al. Twenty-year clinical progression of dysferlinopathy in patients from dagestan. 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