{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T16:19:57Z","timestamp":1787847597957,"version":"build-2784847793"},"reference-count":18,"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":[[2021,7]]},"abstract":"<jats:sec>\n                    <jats:title>Objectives:<\/jats:title>\n                    <jats:p>Collagen-VI-related myopathies are caused by both dominant and recessive mutations in the three collagen-VI-related genes (COL6A1, COL6A2, and COL6A3) and present as two different major clinical entities; Bethlem myopathy and Ullrich congenital muscular dystrophy.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>In this study, we evaluated the clinical, pathologic, and genetic features of 8 patients with Bethlem myopathy from 3 families.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>We inspected disease course differences with age and mutations. Different variants in COL6A1 and COL6A2 genes were detected. Muscle MRI of the lower limbs showed a specific pattern of muscle involvement with variable severity of fatty infiltration. One family had essential hypertension.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>Genotype-phenotype correlation studies are critical in determining gene or mutation-targeted therapies, patient follow-up, severity and progression prediction, and genetic counselling.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/aian.aian_1182_20","type":"journal-article","created":{"date-parts":[[2021,4,5]],"date-time":"2021-04-05T09:36:19Z","timestamp":1617615379000},"page":"547-551","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":3,"title":["Genotype-Phenotype Correlation of the Childhood-Onset Bethlem Myopathy in the Mediterranean Region of Turkey"],"prefix":"10.4103","volume":"24","author":[{"given":"Muhammet G.","family":"Kutluk","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naz","family":"Kadem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omer","family":"Bektas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadide C.","family":"Randa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00f6kcen O.","family":"Tuncer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pelin","family":"Albayrak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tuba","family":"Eminoglu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serap T.","family":"Teber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-16-20240828","first-page":"178","article-title":"Bethlem myopathy in a Portuguese patient-case report","volume":"38","author":"Martins","year":"2017","journal-title":"Acta Myologica"},{"key":"R2-16-20240828","doi-asserted-by":"crossref","first-page":"331","DOI":"10.3988\/jcn.2017.13.4.331","article-title":"Clinical, pathologic, and genetic features of collagen VI-related myopathy in Korea","volume":"13","author":"Lee","year":"2017","journal-title":"J Clin Neurol"},{"key":"R3-16-20240828","doi-asserted-by":"crossref","first-page":"1811","DOI":"10.4103\/0366-6999.186638","article-title":"\u201cTarget\u201d and \u201csandwich\u201d signs in thigh muscles have high diagnostic values for collagen VI-related myopathies","volume":"129","author":"Fu","year":"2016","journal-title":"Chin Med J"},{"key":"R4-16-20240828","doi-asserted-by":"crossref","first-page":"712","DOI":"10.4103\/0972-2327.120453","article-title":"Bethlem myopathy: An autosomal dominant myopathy with flexion contractures, keloids, and follicular hyperkeratosis","volume":"16","author":"Saroja","year":"2013","journal-title":"Ann Indian Acad Neurol"},{"key":"R5-16-20240828","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1093\/brain\/99.1.91","article-title":"Benign myopathy, with autosomal dominant inheritance. A report on three pedigrees","volume":"99","author":"Bethlem","year":"1976","journal-title":"Brain"},{"key":"R6-16-20240828","doi-asserted-by":"crossref","first-page":"1192","DOI":"10.1212\/01.wnl.0000307749.66438.6d","article-title":"A refined diagnostic algorithm for Bethlem myopathy","volume":"70","author":"Hicks","year":"2008","journal-title":"Neurology"},{"key":"R8-16-20240828","doi-asserted-by":"crossref","first-page":"1337","DOI":"10.1136\/jnnp-2013-307245","article-title":"Bethlem myopathy: Long-term follow-up identifies COL6 mutations predicting severe clinical evolution","volume":"86","author":"Deconinck","year":"2015","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"R9-16-20240828","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1016\/j.nmd.2019.07.007","article-title":"Autosomal recessive Bethlem myopathy: A clinical, genetic and functional study","volume":"29","author":"Caria","year":"2019","journal-title":"Neuromuscul Disord"},{"key":"R10-16-20240828","doi-asserted-by":"crossref","first-page":"1716","DOI":"10.1212\/WNL.0b013e31826e9b73","article-title":"Reliability and accuracy of skeletal muscle imaging in limb-girdle muscular dystrophies","volume":"79","author":"ten Dam","year":"2012","journal-title":"Neurology"},{"key":"R11-16-20240828","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1183\/09031936.05.00034805","article-title":"Standardisation of spirometry","volume":"26","author":"Miller","year":"2005","journal-title":"Eur Respir J"},{"key":"R12-16-20240828","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":"R13-16-20240828","doi-asserted-by":"crossref","first-page":"D733","DOI":"10.1093\/nar\/gkv1189","article-title":"Reference sequence (RefSeq) database at NCBI: Current status, taxonomic expansion, and functional annotation","volume":"44","author":"O\u2019Leary","year":"2016","journal-title":"Nucleic Acids Res"},{"key":"R14-16-20240828","doi-asserted-by":"crossref","first-page":"1978","DOI":"10.1093\/bioinformatics\/bty897","article-title":"VarSome: The human genomic variant search engine","volume":"35","author":"Kopanos","year":"2019","journal-title":"Bioinformatics"},{"key":"R16-16-20240828","doi-asserted-by":"crossref","first-page":"105734","DOI":"10.1016\/j.clineuro.2020.105734","article-title":"Clinical features of collagen VI-related dystrophies: A large Brazilian cohort","volume":"192","author":"Zanoteli","year":"2020","journal-title":"Clin Neurol Neurosurg"},{"key":"R17-16-20240828","doi-asserted-by":"crossref","first-page":"1617","DOI":"10.1001\/archneur.63.11.1617","article-title":"Cardiac and pulmonary investigations in Bethlem myopathy","volume":"63","author":"van der Kooi","year":"2006","journal-title":"Arch Neurol"},{"key":"R18-16-20240828","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1186\/s12883-019-1263-0","article-title":"COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: A case report","volume":"19","author":"Bao","year":"2019","journal-title":"BMC Neurol"},{"key":"R19-16-20240828","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1007\/s11926-013-0394-3","article-title":"The collagenopathies: Review of clinical phenotypes and molecular correlations","volume":"16","author":"Jobling","year":"2014","journal-title":"Curr Rheumatol Rep"},{"key":"R20-16-20240828","doi-asserted-by":"crossref","first-page":"183","DOI":"10.3988\/jcn.2015.11.2.183","article-title":"Molecular genetic diagnosis of a bethlem myopathy family with an autosomal-dominant COL6A1 mutation, as evidenced by exome sequencing","volume":"11","author":"Park","year":"2015","journal-title":"J Clin Neurol"}],"container-title":["Annals of Indian Academy of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/aian.AIAN_1182_20","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T15:23:31Z","timestamp":1787844211000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/aian.AIAN_1182_20"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7]]},"references-count":18,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2021]]}},"URL":"https:\/\/doi.org\/10.4103\/aian.aian_1182_20","relation":{},"ISSN":["0972-2327"],"issn-type":[{"value":"0972-2327","type":"print"}],"subject":[],"published":{"date-parts":[[2021,7]]}}}