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In the current study, next-generation sequencing demonstrated potential variants in the genes coding for the three alpha chains of collagen VI (<jats:italic>COL6A1<\/jats:italic>, <jats:italic>COL6A2<\/jats:italic>, or <jats:italic>COL6A3<\/jats:italic>) in a cohort of Egyptian patients with progressive muscle weakness (<jats:italic>n<\/jats:italic>\u2009=\u200923). Based on the age of disease onset and the patient clinical course, subjects were diagnosed as follows: 12 with UCMD, 8 with BM, and 3 with intermediate disease form. Fourteen pathogenic variants, including 5 novel alterations, were reported in the enrolled subjects. They included 3 missense, 3 frameshift, and 6 splicing variants in 4, 3, and 6 families, respectively. In addition, a nonsense variant in a single family and an inframe variant in 3 different families were also detected. Recessive and dominant modes of inheritance were recorded in 9 and 8 families, respectively. According to ACMG guidelines, variants were classified as pathogenic (<jats:italic>n<\/jats:italic>\u2009=\u20097), likely pathogenic (<jats:italic>n<\/jats:italic>\u2009=\u20094), or VUS (<jats:italic>n<\/jats:italic>\u2009=\u20093) with significant pathogenic potential. To our knowledge, the study provided the first report of the clinical and genetic findings of a cohort of Egyptian patients with collagen VI deficiency. Inter- and intra-familial clinical variability was evident among the study cohort.<\/jats:p>","DOI":"10.1007\/s12031-024-02266-8","type":"journal-article","created":{"date-parts":[[2024,10,5]],"date-time":"2024-10-05T00:01:26Z","timestamp":1728086486000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Clinical and Molecular Profiles of a Cohort of Egyptian Patients with Collagen VI-Related Dystrophy"],"prefix":"10.1007","volume":"74","author":[{"given":"Wessam E.","family":"Sharaf-Eldin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karima","family":"Rafat","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mahmoud Y.","family":"Issa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hasnaa M.","family":"Elbendary","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noura R.","family":"Eissa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bahaa","family":"Hawaary","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nagwa E. 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