{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T22:02:22Z","timestamp":1780524142062,"version":"3.54.1"},"reference-count":37,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2021,3,2]],"date-time":"2021-03-02T00:00:00Z","timestamp":1614643200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JND"],"published-print":{"date-parts":[[2021,3,2]]},"abstract":"<jats:p>A family of five male siblings (three survivors at 48, 53 and 58 years old; two deceased at 8 months old and 2.5 years old) demonstrating significant phenotypic variability ranging from intermediate to the myosclerotic like Bethlem myopathy is presented. Whole-exome sequencing (WES) identified a new homozygous missense mutation chr21:47402679 T\u200a&gt;\u200aC in the canonical splice donor site of the second intron (c.227\u200a+\u200a2T&gt;C) in the COL6A1 gene. mRNA analysis confirmed skipping of exon 2 encoding 925 amino-acids in 94\u201395% of resulting transcripts. Three sibs presented with intermediate phenotype of collagen VI-related dystrophies (48, 53 and 2.5 years old) while the fourth sibling (58 years old) was classified as Bethlem myopathy with spine rigidity. The two older siblings with the moderate progressive phenotype (48 and 53 years old) lost their ability to maintain a vertical posture caused by pronounced contractures of large joints, but continued to ambulate throughout life on fully bent legs without auxiliary means of support. Immunofluorescence analysis of dermal fibroblasts demonstrated that no type VI collagen was secreted in any of the siblings\u2019 cells, regardless of clinical manifestations severity while fibroblast proliferation and colony formation ability was decreased. The detailed genetic and long term clinical data contribute to broadening the genotypic and phenotypic spectrum of COL6A1 related disease.<\/jats:p>","DOI":"10.3233\/jnd-200476","type":"journal-article","created":{"date-parts":[[2020,12,18]],"date-time":"2020-12-18T10:26:00Z","timestamp":1608287160000},"page":"273-285","source":"Crossref","is-referenced-by-count":11,"title":["Intrafamilial Phenotypic Variability of Collagen VI-Related Myopathy Due to a New Mutation in the COL6A1 Gene"],"prefix":"10.1177","volume":"8","author":[{"given":"Sergey N.","family":"Bardakov","sequence":"first","affiliation":[{"name":"S.M. Kirov Military Medical Academy, St. Petersburg, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roman V.","family":"Deev","sequence":"additional","affiliation":[{"name":"Human Stem Cells Institute, Moscow, Russia"},{"name":"I.I. Mechnikov North-Western State Medical University, St. Petersburg, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raisat M.","family":"Magomedova","sequence":"additional","affiliation":[{"name":"Dagestan State Medical Academy, Makhachkala, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zoya R.","family":"Umakhanova","sequence":"additional","affiliation":[{"name":"Dagestan State Medical Academy, Makhachkala, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Allamand","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9 UPMC Paris 06 \u2013Inserm UMRS974, Research Center in Myology, Hospital Piti\u00e9-Salp\u00eatri\u00e8re, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corine","family":"Gartioux","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9 UPMC Paris 06 \u2013Inserm UMRS974, Research Center in Myology, Hospital Piti\u00e9-Salp\u00eatri\u00e8re, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kamil Z.","family":"Zulfugarov","sequence":"additional","affiliation":[{"name":"Dagestan State Medical Academy, Makhachkala, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patimat G.","family":"Akhmedova","sequence":"additional","affiliation":[{"name":"Dagestan State Medical Academy, Makhachkala, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vadim A.","family":"Tsargush","sequence":"additional","affiliation":[{"name":"S.M. 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