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A Novel Splice Site Variant in COL6A1 Causes Ullrich Congenital Muscular Dystrophy in a Consanguineous Malian Family.

Molecular genetics & genomic medicine - 1 Nov 2024

Maiga Alassane Baneye, Pamanta Ibrahim, Bamba Salia, Cissé Lassana, Diarra Salimata, Touré Sidi, Yalcouyé Abdoulaye, Diallo Seydou, Diallo Salimata, Kané Fousseyni, Diallo Seybou Hassane, Ba Hamidou Oumar, Guinto Cheick Oumar, Fischbeck Kenneth, Landoure Guida, Cissé Idrissa Ahmadou

Abstract excerpt

BACKGROUND: Congenital muscular dystrophies (CMDs) are diverse early-onset conditions affecting skeletal muscle and connective tissue. This group includes collagen VI-related dystrophies such as Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM), caused by mutations in the COL6A1, COL6A2 and COL6A3 genes. We report a consanguineous Malian family with three siblings affected by UCMD due to a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 39523858
DOI: 10.1002/mgg3.70032
PMCID: PMC11551527

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