{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Foley AR"],"funding":["NIH National Institute of Neurological Disorders and Stroke","GREGoR Consortium","Deutsche Forschungsgemeinschaft","Instituto de Salud Carlos III","the National Human Genome Research Institute","NIH Medical Research Scholars Program","NINDS NIH HHS"],"pagination":["3215-3227"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12404708"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["148(9)"],"pubmed_abstract":["Collagen VI-related dystrophies manifest with a spectrum of clinical phenotypes, ranging from Ullrich congenital muscular dystrophy (UCMD), presenting with prominent congenital symptoms and characterized by progressive muscle weakness, joint contractures and respiratory insufficiency, to Bethlem muscular dystrophy, with milder symptoms typically recognized later and at times resembling a limb girdle muscular dystrophy, and intermediate phenotypes falling between UCMD and Bethlem muscular dystrophy. Despite clinical and muscle pathology features highly suggestive of collagen VI-related dystrophy, some patients had remained without an identified causative variant in COL6A1, COL6A2 or COL6A3. With combined muscle RNA sequencing and whole-genome sequencing, we uncovered a recurrent, de novo de"],"journal":["Brain : a journal of neurology"],"pubmed_title":["Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T."],"pmcid":["PMC12404708"],"funding_grant_id":["K22 NS104135"],"pubmed_authors":["McDonald D","Hu Y","Wilton SD","Neuhaus SB","Gospe SM","Aguti S","Wagener R","Bonnemann CG","Jimenez-Mallebrera C","Bolduc V","Gartioux C","Schiavinato A","Cummings BB","Finanger E","Jou C","Ferlini A","Grosmann C","Orbach R","Bhise V","Leach ME","Quijano-Roy S","Richardson R","MacArthur DG","Foley AR","Jokela M","Saade D","Bertini E","Lace B","Nascimento A","Palmio J","Nishino I","Norato G","Donkervoort S","Sarkozy A","Lek M","Ryan M","Mohassel P","Allamand V","Gualandi F","Sarathy A","Leung E","Cocanougher BT","Munot P","Yoon G","Scavina M","Troncoso M","Haliloglu G","Guirguis F","Taurina G","Solomon-Degefa H","Zhou H","Kirschner J","McCarty RM","Lamande SR","Merlini L","Tian C","Nevo Y","Chan SHS","Comi G","Chu ML","Muntoni F","Stojkovic T","Shalata A","Natera-de Benito D","Kossak BD","Shohat M","Butterfield RJ","Freiburg CD","Collins J"],"additional_accession":[]},"is_claimable":false,"name":"Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.","description":"Collagen VI-related dystrophies manifest with a spectrum of clinical phenotypes, ranging from Ullrich congenital muscular dystrophy (UCMD), presenting with prominent congenital symptoms and characterized by progressive muscle weakness, joint contractures and respiratory insufficiency, to Bethlem muscular dystrophy, with milder symptoms typically recognized later and at times resembling a limb girdle muscular dystrophy, and intermediate phenotypes falling between UCMD and Bethlem muscular dystrophy. Despite clinical and muscle pathology features highly suggestive of collagen VI-related dystrophy, some patients had remained without an identified causative variant in COL6A1, COL6A2 or COL6A3. With combined muscle RNA sequencing and whole-genome sequencing, we uncovered a recurrent, de novo de","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Sep","modification":"2026-06-03T11:30:39.274Z","creation":"2026-04-27T03:09:33.618Z"},"accession":"S-EPMC12404708","cross_references":{"pubmed":["40177858"],"doi":["10.1093/brain/awaf116"]}}