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… Click to show full abstract
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 novel homozygous splice site variant in the COL6A1 gene.
Keywords:
malian family;
splice site;
congenital muscular;
consanguineous malian;
muscular dystrophy;
ullrich congenital
Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2024
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Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2024
Link to full text (if available)
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recommendations!