{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:45:19Z","timestamp":1760147119785,"version":"build-2065373602"},"reference-count":32,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2023,1,12]],"date-time":"2023-01-12T00:00:00Z","timestamp":1673481600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Research Foundation of Korea (NRF) grant funded by the Korean government (MSIT; Ministry of Science and ICT)","award":["2020R1F1A1077316"],"award-info":[{"award-number":["2020R1F1A1077316"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Dysferlinopathy covers a spectrum of muscle disorder categorized by two major phenotypes, namely Miyoshi muscular dystrophy type 1 (MMD1, OMIM #254130) and limb-girdle muscular dystrophy autosomal recessive 2 (LGMDR2, OMIM #253601), and two minor symptoms, including asymptomatic hyperCKemia and distal myopathy with anterior tibial onset (DMAT, OMIM #606768). We report the first Korean MMD1 misdiagnosed as Becker muscular dystrophy (BMD), which was caused by a combination of compound heterozygous c.663 + 1G &gt; C and p.Trp992Arg of the DYSF gene. A 70-year-old male previously diagnosed with BMD was admitted for genetic counseling. Since he was clinically suspected to have dysferlinopathy but not BMD, targeted panel sequencing was performed to discover the potential hereditary cause of the suspected muscular dystrophy in the proband. Consequently, two pathogenic single nucleotide variants of the DYSF gene, c.663 + 1G &gt; C (rs398123800) and p.Trp992Arg (rs750028300), associated with dysferlinopathy were identified. These variants were previously reported with variant allele frequencies of 0.000455 (c.663 + 1G &gt; C) and 0.000455 (c.2974T &gt; C; p.Trp992Arg) in the Korean population. This report emphasizes the need for common variant screening in the diagnostic algorithms of certain muscle disorders or gene panels with potential pathogenic effects and high rates of recurrent variants.<\/jats:p>","DOI":"10.3390\/genes14010200","type":"journal-article","created":{"date-parts":[[2023,1,12]],"date-time":"2023-01-12T05:03:03Z","timestamp":1673499783000},"page":"200","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Miyoshi Muscular Dystrophy Type 1 with Mutated DYSF Gene Misdiagnosed as Becker Muscular Dystrophy: A Case Report and Literature Review"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7354-4234","authenticated-orcid":false,"given":"Joonhong","family":"Park","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine, Jeonbuk National University Medical School and Hospital, Jeonju 54907, Republic of Korea"},{"name":"Research Institute of Clinical Medicine of Jeonbuk National University-Biomedical Research Institute of Jeonbuk National University Hospital, Jeonju 54907, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5285-7618","authenticated-orcid":false,"given":"Young Jae","family":"Moon","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery, Jeonbuk National University Hospital, Jeonju 54907, Republic of Korea"},{"name":"Department of Biochemistry and Molecular Biology, Jeonbuk National University Medical School, Jeonju 54907, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dal Sik","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Jeonbuk National University Medical School and Hospital, Jeonju 54907, Republic of Korea"},{"name":"Research Institute of Clinical Medicine of Jeonbuk National University-Biomedical Research Institute of Jeonbuk National University Hospital, Jeonju 54907, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,1,12]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1093\/brain\/109.1.31","article-title":"Autosomal recessive distal muscular dystrophy as a new type of progressive muscular dystrophy: Seventeen cases in eight families including an autopsied case","volume":"109","author":"Miyoshi","year":"1986","journal-title":"Brain"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1932","DOI":"10.1016\/j.bbadis.2014.06.015","article-title":"Next generation sequencing technology: Advances and applications","volume":"1842","author":"Buermans","year":"2014","journal-title":"Biochim. Biophys. Acta"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"770350","DOI":"10.3389\/fgene.2021.770350","article-title":"Molecular Diagnosis of Muscular Dystrophy Patients in Western Indian Population: A Comprehensive Mutation Analysis Using Amplicon Sequencing","volume":"12","author":"Patel","year":"2021","journal-title":"Front. Genet."},{"key":"ref_4","doi-asserted-by":"crossref","unstructured":"Gonzalez-Quereda, L., Rodriguez, M.J., Diaz-Manera, J., Alonso-Perez, J., Gallardo, E., Nascimento, A., Ortez, C., Natera-de Benito, D., Olive, M., and Gonzalez-Mera, L. (2020). Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain. Genes, 11.","DOI":"10.3390\/genes11050539"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1136\/jmedgenet-2019-106671","article-title":"Clinical spectrum and genetic variations of LMNA-related muscular dystrophies in a large cohort of Chinese patients","volume":"58","author":"Fan","year":"2021","journal-title":"J. Med. Genet."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"927","DOI":"10.3349\/ymj.2004.45.5.927","article-title":"Identification of a dysferlin gene mutation in a Korean case with Miyoshi myopathy","volume":"45","author":"Oh","year":"2004","journal-title":"Yonsei Med. J."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"724","DOI":"10.3346\/jkms.2006.21.4.724","article-title":"Clinical and genetic analysis of Korean patients with Miyoshi myopathy: Identification of three novel mutations in the DYSF gene","volume":"21","author":"Cho","year":"2006","journal-title":"J. Korean Med. Sci."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1016\/j.nmd.2011.12.007","article-title":"Two common mutations (p.Gln832X and c.663 + 1G > C) account for about a third of the DYSF mutations in Korean patients with dysferlinopathy","volume":"22","author":"Park","year":"2012","journal-title":"Neuromuscul. Disord. NMD"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"502","DOI":"10.1016\/j.nmd.2015.03.006","article-title":"Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy","volume":"25","author":"Shin","year":"2015","journal-title":"Neuromuscul. Disord. NMD"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"484","DOI":"10.1111\/cge.12621","article-title":"Clinical applications of next-generation sequencing-based gene panel in patients with muscular dystrophy: Korean experience","volume":"89","author":"Seong","year":"2016","journal-title":"Clin. Genet."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1111\/cge.12826","article-title":"Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders","volume":"91","author":"Park","year":"2017","journal-title":"Clin. Genet."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"e20810","DOI":"10.1097\/MD.0000000000020810","article-title":"Genetically confirmed limb-girdle muscular dystrophy type 2B with DYSF mutation using gene panel sequencing: A case report","volume":"99","author":"Lee","year":"2020","journal-title":"Medicine"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"D439","DOI":"10.1093\/nar\/gkab1061","article-title":"AlphaFold Protein Structure Database: Massively expanding the structural coverage of protein-sequence space with high-accuracy models","volume":"50","author":"Varadi","year":"2022","journal-title":"Nucleic Acids Res."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"1540","DOI":"10.1002\/humu.24036","article-title":"The genetic profile of dysferlinopathy in a cohort of 209 cases: Genotype-phenotype relationship and a hotspot on the inner DysF domain","volume":"41","author":"Izumi","year":"2020","journal-title":"Hum. Mutat."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1002\/mus.21650","article-title":"Novel diagnostic features of dysferlinopathies","volume":"42","author":"Rosales","year":"2010","journal-title":"Muscle Nerve"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1016\/j.ncl.2020.03.007","article-title":"Distal Myopathies","volume":"38","author":"Felice","year":"2020","journal-title":"Neurol. Clin."},{"key":"ref_18","first-page":"245","article-title":"Panorama of the distal myopathies","volume":"39","author":"Savarese","year":"2020","journal-title":"Acta Myol."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"423","DOI":"10.3346\/jkms.2012.27.4.423","article-title":"Heterogeneous characteristics of Korean patients with dysferlinopathy","volume":"27","author":"Park","year":"2012","journal-title":"J. Korean Med. Sci."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"3068","DOI":"10.3892\/etm.2016.3716","article-title":"Atypical Miyoshi distal myopathy: A case report","volume":"12","author":"Wang","year":"2016","journal-title":"Exp. Ther. Med."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"e10539","DOI":"10.1097\/MD.0000000000010539","article-title":"Limb-girdle muscular dystrophy type 2B misdiagnosed as polymyositis at the early stage: Case report and literature review","volume":"97","author":"Xu","year":"2018","journal-title":"Medicine"},{"key":"ref_22","doi-asserted-by":"crossref","unstructured":"Contreras-Cubas, C., Barajas-Olmos, F., Frayre-Mart\u00ednez, M.I., Siordia-Reyes, G., Gu\u00edzar-S\u00e1nchez, C.C., Garc\u00eda-Ortiz, H., Orozco, L., and Baca, V. (2022). Dysferlinopathy misdiagnosed with juvenile polymyositis in the pre-symptomatic stage of hyperCKemia: A case report and literature review. BMC Med. Genom., 15.","DOI":"10.1186\/s12920-022-01284-y"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"2136","DOI":"10.1212\/WNL.57.11.2136","article-title":"Inflammation in dysferlin myopathy: Immunohistochemical characterization of 13 patients","volume":"57","author":"Gallardo","year":"2001","journal-title":"Neurology"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1046\/j.1365-2990.2002.00417.x","article-title":"Muscle pathology in dysferlin deficiency","volume":"28","author":"Fanin","year":"2002","journal-title":"Neuropathol. Appl. Neurobiol."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1016\/S0960-8966(99)00041-3","article-title":"Prominent inflammatory changes on muscle biopsy in patients with Miyoshi myopathy","volume":"9","author":"Rowin","year":"1999","journal-title":"Neuromuscul. Disord. NMD"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"946","DOI":"10.1136\/jnnp.2009.178038","article-title":"New aspects on patients affected by dysferlin deficient muscular dystrophy","volume":"81","author":"Klinge","year":"2010","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"2891","DOI":"10.2353\/ajpath.2010.090058","article-title":"Inflammasome up-regulation and activation in dysferlin-deficient skeletal muscle","volume":"176","author":"Rawat","year":"2010","journal-title":"Am. J. Pathol."},{"key":"ref_28","doi-asserted-by":"crossref","unstructured":"Sula, A., Cole, A.R., Yeats, C., Orengo, C., and Keep, N.H. (2014). Crystal structures of the human Dysferlin inner DysF domain. BMC Struct. Biol., 14.","DOI":"10.1186\/1472-6807-14-3"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1002\/mus.20586","article-title":"Entries in the Leiden Duchenne muscular dystrophy mutation database: An overview of mutation types and paradoxical cases that confirm the reading-frame rule","volume":"34","author":"Fokkema","year":"2006","journal-title":"Muscle Nerve"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"1996","DOI":"10.1101\/gr.198701","article-title":"Novel protein domains and repeats in Drosophila melanogaster: Insights into structure, function, and evolution","volume":"11","author":"Ponting","year":"2001","journal-title":"Genome Res."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"2377","DOI":"10.1021\/bi802242r","article-title":"Characterization of lipid binding specificities of dysferlin C2 domains reveals novel interactions with phosphoinositides","volume":"48","author":"Therrien","year":"2009","journal-title":"Biochemistry"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"981","DOI":"10.1016\/j.jmb.2008.04.046","article-title":"Solution structure of the inner DysF domain of myoferlin and implications for limb girdle muscular dystrophy type 2b","volume":"379","author":"Patel","year":"2008","journal-title":"J. Mol. Biol."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/14\/1\/200\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T18:04:12Z","timestamp":1760119452000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/14\/1\/200"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,1,12]]},"references-count":32,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2023,1]]}},"alternative-id":["genes14010200"],"URL":"https:\/\/doi.org\/10.3390\/genes14010200","relation":{},"ISSN":["2073-4425"],"issn-type":[{"type":"electronic","value":"2073-4425"}],"subject":[],"published":{"date-parts":[[2023,1,12]]}}}