{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,12,6]],"date-time":"2023-12-06T10:59:03Z","timestamp":1701860343799},"reference-count":26,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2021,5,8]],"date-time":"2021-05-08T00:00:00Z","timestamp":1620432000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Annals of Human Genetics"],"published-print":{"date-parts":[[2021,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hereditary myopathies are a heterogeneous disorder known to be associated with more than 100 genes. Although hereditary myopathy subgroups can be partially described with traditional methods such as muscle biopsy, next\u2010generation sequencing (NGS) is essential to reveal the disease's underlying genetic etiology and molecular mechanisms. In this study, we performed clinical exome sequencing or whole\u2010exome sequencing (CES\/WES) in 20 unrelated Turkish patients. Thirteen pathogenic or likely pathogenic variants, including five novel variantswere detected in the 16 known hereditary myopathy genes. We achieved a high rate of diagnosis (65%) compared to previous studies. The most common condition noticed was limb\u2010girdle muscular dystrophy (LGMD), which should not be ignored in patients diagnosed with myopathy. CES or WES provides a certain molecular diagnosis from a broad perspective to demonstrate underlying genetic causes in heterogeneous disorders. Therefore, exome sequencing offers a higher and more complete diagnosis than the gene panel.<\/jats:p>","DOI":"10.1111\/ahg.12429","type":"journal-article","created":{"date-parts":[[2021,5,9]],"date-time":"2021-05-09T06:12:50Z","timestamp":1620540770000},"page":"178-185","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Mutation spectrum of hereditary myopathies in Turkish patients and novel variants"],"prefix":"10.1111","volume":"85","author":[{"given":"Hanife","family":"Saat","sequence":"first","affiliation":[{"name":"Department of Medical Genetics University of Health Sciences, D\u0131\u015fkap\u0131 Y\u0131ld\u0131r\u0131m Beyaz\u0131t Research and Training Hospital  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ibrahim","family":"Sahin","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of Health Sciences, D\u0131\u015fkap\u0131 Y\u0131ld\u0131r\u0131m Beyaz\u0131t Research and Training Hospital  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,5,8]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1080\/21678707.2017.1367283"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10072-020-04304-w"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-012-0315-z"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13052-017-0419-z"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2014-102819"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2014.08.020"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2015.10.003"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24580"},{"key":"e_1_2_8_10_1","volume-title":"Muscle Cell and Tissue","author":"Gonz\u00e1lez\u2010Jamett A. 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