{"_id":"Hd6JMripPHHcxp88n","bibbaseid":"mihaylova-chablais-bremer-guggenberger-rushing-bethge-spiegel-jung-collagenvirelatedmyopathycausedbycompoundheterozygousmutationsofcol6a3inaconsanguineouskurdishfamily-2021","author_short":["Mihaylova, V.","Chablais, F.","Bremer, J.","Guggenberger, R.","Rushing, E. J.","Bethge, T.","Spiegel, R.","Jung, H."],"bibdata":{"bibtype":"article","type":"article","title":"Collagen VI-Related Myopathy Caused by Compound Heterozygous Mutations of COL6A3 in a Consanguineous Kurdish Family","volume":"22","issn":"1537-1611","doi":"10.1097/CND.0000000000000320","abstract":"ABSTRACT: Collagen VI-related myopathies are caused by mutations of COL6A1, COL6A2, and COL6A3 and present with a wide phenotypic spectrum ranging from severe Ulrich congenital muscular dystrophy to mild Bethlem myopathy. Here, we report a consanguineous Kurdish family with 3 siblings affected by autosomal-recessive Bethlem myopathy caused by compound heterozygous mutations of COL6A3. We found the previously described missense mutation c.7447A \\textgreater G/p.(Lys2483Glu) and a novel large deletion encompassing the exon 1-39 of the COL6A3 gene. Apart from the classical clinical symptoms, all patients had keratoconus, which expands the phenotype of the collagen VI-related myopathies.","language":"eng","number":"3","journal":"Journal of Clinical Neuromuscular Disease","author":[{"propositions":[],"lastnames":["Mihaylova"],"firstnames":["Violeta"],"suffixes":[]},{"propositions":[],"lastnames":["Chablais"],"firstnames":["Fabian"],"suffixes":[]},{"propositions":[],"lastnames":["Bremer"],"firstnames":["Juliane"],"suffixes":[]},{"propositions":[],"lastnames":["Guggenberger"],"firstnames":["Roman"],"suffixes":[]},{"propositions":[],"lastnames":["Rushing"],"firstnames":["Elisabeth","J."],"suffixes":[]},{"propositions":[],"lastnames":["Bethge"],"firstnames":["Tobias"],"suffixes":[]},{"propositions":[],"lastnames":["Spiegel"],"firstnames":["Roland"],"suffixes":[]},{"propositions":[],"lastnames":["Jung"],"firstnames":["Hans-Heinrich"],"suffixes":[]}],"month":"March","year":"2021","pmid":"33596003","pages":"173–179","bibtex":"@article{mihaylova_collagen_2021,\n\ttitle = {Collagen {VI}-{Related} {Myopathy} {Caused} by {Compound} {Heterozygous} {Mutations} of {COL6A3} in a {Consanguineous} {Kurdish} {Family}},\n\tvolume = {22},\n\tissn = {1537-1611},\n\tdoi = {10.1097/CND.0000000000000320},\n\tabstract = {ABSTRACT: Collagen VI-related myopathies are caused by mutations of COL6A1, COL6A2, and COL6A3 and present with a wide phenotypic spectrum ranging from severe Ulrich congenital muscular dystrophy to mild Bethlem myopathy. Here, we report a consanguineous Kurdish family with 3 siblings affected by autosomal-recessive Bethlem myopathy caused by compound heterozygous mutations of COL6A3. We found the previously described missense mutation c.7447A {\\textgreater} G/p.(Lys2483Glu) and a novel large deletion encompassing the exon 1-39 of the COL6A3 gene. Apart from the classical clinical symptoms, all patients had keratoconus, which expands the phenotype of the collagen VI-related myopathies.},\n\tlanguage = {eng},\n\tnumber = {3},\n\tjournal = {Journal of Clinical Neuromuscular Disease},\n\tauthor = {Mihaylova, Violeta and Chablais, Fabian and Bremer, Juliane and Guggenberger, Roman and Rushing, Elisabeth J. and Bethge, Tobias and Spiegel, Roland and Jung, Hans-Heinrich},\n\tmonth = mar,\n\tyear = {2021},\n\tpmid = {33596003},\n\tpages = {173--179},\n}\n\n\n\n","author_short":["Mihaylova, V.","Chablais, F.","Bremer, J.","Guggenberger, R.","Rushing, E. J.","Bethge, T.","Spiegel, R.","Jung, H."],"key":"mihaylova_collagen_2021","id":"mihaylova_collagen_2021","bibbaseid":"mihaylova-chablais-bremer-guggenberger-rushing-bethge-spiegel-jung-collagenvirelatedmyopathycausedbycompoundheterozygousmutationsofcol6a3inaconsanguineouskurdishfamily-2021","role":"author","urls":{},"metadata":{"authorlinks":{}},"downloads":3},"bibtype":"article","biburl":"https://bibbase.org/zotero/SOPHiAGENETICS","dataSources":["Pcpsxmwz8uxXtL843","vPYMrJTaJTbhFPPb4"],"keywords":[],"search_terms":["collagen","related","myopathy","caused","compound","heterozygous","mutations","col6a3","consanguineous","kurdish","family","mihaylova","chablais","bremer","guggenberger","rushing","bethge","spiegel","jung"],"title":"Collagen VI-Related Myopathy Caused by Compound Heterozygous Mutations of COL6A3 in a Consanguineous Kurdish Family","year":2021,"downloads":3}