{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,10]],"date-time":"2025-07-10T20:10:06Z","timestamp":1752178206926,"version":"3.41.2"},"reference-count":20,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,7,10]]},"DOI":"10.7759\/cureus.87683","type":"journal-article","created":{"date-parts":[[2025,7,10]],"date-time":"2025-07-10T19:50:30Z","timestamp":1752177030000},"source":"Crossref","is-referenced-by-count":0,"title":["A Late-Onset Presentation of Miyoshi Myopathy: A Case Report"],"prefix":"10.7759","author":[{"given":"Ubaid","family":"Ansari","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aakriti","family":"Dua","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Esha","family":"Aneja","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noorhan","family":"Amani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zohaer","family":"Muttalib","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Forshing","family":"Lui","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Biljinder S","family":"Chima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","article-title":"Four cases of distal myopathy in two families","volume":"12","author":"Miyoshi K","year":"1967","unstructured":"Miyoshi K. Four cases of distal myopathy in two families. Jpn J Hum Genet. 1967, 12:113.","journal-title":"Jpn J Hum Genet"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.3892\/etm.2016.3716","article-title":"Atypical Miyoshi distal myopathy: a case report","volume":"12","author":"Wang M","year":"2016","unstructured":"Wang M, Guo Y, Fu Y, Jia R, Chen G. Atypical Miyoshi distal myopathy: a case report. Exp Ther Med. 2016, 12:3068-72. 10.3892\/etm.2016.3716","journal-title":"Exp Ther Med"},{"key":"ref3","doi-asserted-by":"publisher","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 K","year":"1986","unstructured":"Miyoshi K, Kawai H, Iwasa M, Kusaka K, Nishino H. Autosomal recessive distal muscular dystrophy as a new type of progressive muscular dystrophy. Seventeen cases in eight families including an autopsied case. Brain. 1986, 109:31-54. 10.1093\/brain\/109.1.31","journal-title":"Brain"},{"key":"ref4","article-title":"Mutation at a new allele of the dysferlin gene causes Miyoshi myopathy: A case report","volume":"21","author":"Yan HY","year":"2021","unstructured":"Yan HY, Xie YN, Han JZ, Song XQ. Mutation at a new allele of the dysferlin gene causes Miyoshi myopathy: A case report. J Musculoskelet Neuronal Interact. 2021, 21:397-400.","journal-title":"J Musculoskelet Neuronal Interact"},{"key":"ref5","doi-asserted-by":"publisher","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 HJ","year":"2006","unstructured":"Cho HJ, Sung DH, Kim EJ, Yoon CH, Ki CS, Kim JW. Clinical and genetic analysis of Korean patients with Miyoshi myopathy: identification of three novel mutations in the DYSF gene. J Korean Med Sci. 2006, 21:724-7. 10.3346\/jkms.2006.21.4.724","journal-title":"J Korean Med Sci"},{"key":"ref6","article-title":"Muscle MRI in muscular dystrophies","volume":"34","author":"D\u00edaz-Manera J","year":"2015","unstructured":"D\u00edaz-Manera J, Llauger J, Gallardo E, Illa I. Muscle MRI in muscular dystrophies. Acta Myol. 2015, 34:95-108.","journal-title":"Acta Myol"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.7759\/cureus.68869","article-title":"Clinical presentation, diagnosis, and genetic insights of Miyoshi myopathy: a case report and literature review","volume":"16","author":"Stolarski \u0141","year":"2024","unstructured":"Stolarski \u0141, Patrza\u0142ek P, Gerber F, Tokarczyk W, Bialasik-Misiorny M, Kulma M. Clinical presentation, diagnosis, and genetic insights of Miyoshi myopathy: a case report and literature review. Cureus. 2024, 16:e68869. 10.7759\/cureus.68869","journal-title":"Cureus"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1007\/s13317-014-0062-2","article-title":"Muscle biopsy features of idiopathic inflammatory myopathies and differential diagnosis","volume":"5","author":"Vattemi G","year":"2014","unstructured":"Vattemi G, Mirabella M, Guglielmi V, Lucchini M, Tomelleri G, Ghirardello A, Doria A. Muscle biopsy features of idiopathic inflammatory myopathies and differential diagnosis. Auto Immun Highlights. 2014, 5:77-85. 10.1007\/s13317-014-0062-2","journal-title":"Auto Immun Highlights"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.3390\/genes14010200","article-title":"Miyoshi muscular dystrophy type 1 with mutated DYSF gene misdiagnosed as Becker muscular dystrophy: a case report and literature review","volume":"14","author":"Park J","year":"2023","unstructured":"Park J, Moon YJ, Kim DS. Miyoshi muscular dystrophy type 1 with mutated DYSF gene misdiagnosed as Becker muscular dystrophy: a case report and literature review. Genes (Basel). 2023, 14:200. 10.3390\/genes14010200","journal-title":"Genes (Basel)"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1086\/421527","article-title":"The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD)","volume":"74","author":"Tsutsumi S","year":"2004","unstructured":"Tsutsumi S, Kamata N, Vokes TJ, et al.. The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD). Am J Hum Genet. 2004, 74:1255-61. 10.1086\/421527","journal-title":"Am J Hum Genet"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1002\/mus.25608","article-title":"Hyperckemia and myalgia are common presentations of anoctamin-5-related myopathy in French patients","volume":"56","author":"Papadopoulos C","year":"2017","unstructured":"Papadopoulos C, Lafor\u00cat P, Nectoux J, et al.. Hyperckemia and myalgia are common presentations of anoctamin-5-related myopathy in French patients. Muscle Nerve. 2017, 56:1096-100. 10.1002\/mus.25608","journal-title":"Muscle Nerve"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13544","article-title":"Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients","volume":"96","author":"Ten Dam L","year":"2019","unstructured":"Ten Dam L, Frankhuizen WS, Linssen WH, et al.. Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients. Clin Genet. 2019, 96:126-33. 10.1111\/cge.13544","journal-title":"Clin Genet"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.3390\/genes13101736","article-title":"Anoctamin 5 (ANO5) muscle disorders: a narrative review","volume":"13","author":"Soontrapa P","year":"2022","unstructured":"Soontrapa P, Liewluck T. Anoctamin 5 (ANO5) muscle disorders: a narrative review. Genes (Basel). 2022, 13:1736. 10.3390\/genes13101736","journal-title":"Genes (Basel)"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1186\/1752-1947-6-345","article-title":"Late-onset myopathy of the posterior calf muscles mimicking Miyoshi myopathy unrelated to dysferlin mutation: a case report","volume":"6","author":"Neusch C","year":"2012","unstructured":"Neusch C, Kuhlmann T, Kress W, Schneider-Gold C. Late-onset myopathy of the posterior calf muscles mimicking Miyoshi myopathy unrelated to dysferlin mutation: a case report. J Med Case Rep. 2012, 6:345. 10.1186\/1752-1947-6-345","journal-title":"J Med Case Rep"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1002\/mus.23542","article-title":"Novel mutations in the Anoctamin 5 gene (ANO5) associated with limb-girdle muscular dystrophy 2L","volume":"47","author":"Little AA","year":"2013","unstructured":"Little AA, McKeever PE, Gruis KL. Novel mutations in the Anoctamin 5 gene (ANO5) associated with limb-girdle muscular dystrophy 2L. Muscle Nerve. 2013, 47:287-91. 10.1002\/mus.23542","journal-title":"Muscle Nerve"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1111\/ncn3.175","article-title":"First Japanese case of muscular dystrophy caused by a mutation in the anoctamin 5 gene","volume":"3","author":"Kida H","year":"2015","unstructured":"Kida H, Sano K, Yorita A, et al.. First Japanese case of muscular dystrophy caused by a mutation in the anoctamin 5 gene. Neurol Clin Neurosci. 2015, 3:150-2. 10.1111\/ncn3.175","journal-title":"Neurol Clin Neurosci"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1186\/s12891-024-07270-y","article-title":"Miyoshi myopathy associated with spine rigidity and multiple contractures: a case report","volume":"25","author":"Bardakov SN","year":"2024","unstructured":"Bardakov SN, Titova AA, Nikitin SS, et al.. Miyoshi myopathy associated with spine rigidity and multiple contractures: a case report. BMC Musculoskelet Disord. 2024, 25:146. 10.1186\/s12891-024-07270-y","journal-title":"BMC Musculoskelet Disord"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1136\/bcr-2021-242341","article-title":"A new dysferlin gene mutation in a Portuguese family with Miyoshi myopathy","volume":"14","author":"Ganchinho Lucas S","year":"2021","unstructured":"Ganchinho Lucas S, Vieira Santos I, Pencas Alfaiate FJ, Lino I. A new dysferlin gene mutation in a Portuguese family with Miyoshi myopathy. BMJ Case Rep. 2021, 14:10.1136\/bcr-2021-242341","journal-title":"BMJ Case Rep"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-024-50569-6","article-title":"Systemic delivery of full-length dystrophin in Duchenne muscular dystrophy mice","volume":"15","author":"Zhou Y","year":"2024","unstructured":"Zhou Y, Zhang C, Xiao W, Herzog RW, Han R. Systemic delivery of full-length dystrophin in Duchenne muscular dystrophy mice. Nat Commun. 2024, 15:6141. 10.1038\/s41467-024-50569-6","journal-title":"Nat Commun"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.3390\/cells8091066","article-title":"Potential therapies using myogenic stem cells combined with bio-engineering approaches for treatment of muscular dystrophies","volume":"8","author":"Motohashi N","year":"2019","unstructured":"Motohashi N, Shimizu-Motohashi Y, Roberts TC, Aoki Y. Potential therapies using myogenic stem cells combined with bio-engineering approaches for treatment of muscular dystrophies. Cells. 2019, 8:1066. 10.3390\/cells8091066","journal-title":"Cells"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/340857-a-late-onset-presentation-of-miyoshi-myopathy-a-case-report","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,7,10]],"date-time":"2025-07-10T19:50:36Z","timestamp":1752177036000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/340857-a-late-onset-presentation-of-miyoshi-myopathy-a-case-report"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7,10]]},"references-count":20,"URL":"https:\/\/doi.org\/10.7759\/cureus.87683","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2025,7,10]]}}}