Collagen VI myopathies are a group of genetic disorders caused by mutations in the COL6A1, COL6A2, and COL6A3 genes, which encode collagen type VI (ColVI). These disorders present a clinical spectrum ranging from Ullrich congenital muscular dystrophy (UCMD) at one end to Bethlem myopathy (BM) at the other, with intermediate phenotypes in between. ColVI plays a critical structural role in connective tissues, particularly in skeletal muscle, where it supports cell adhesion, migration, and survival. Mutations in ColVI lead to impaired muscle function, joint contractures, and other symptoms, and are associated with mitochondrial dysfunction and defects in autophagy. Recent research has identified various mutations, including de novo dominant mutations and recessive mutations, which result in different clinical presentations. The diagnosis of ColVI myopathies involves molecular genetic testing, immunocytochemistry, and imaging techniques such as MRI. Therapeutic approaches are currently limited, but studies suggest that drugs like cyclosporin A may help improve mitochondrial function and reduce apoptosis. Research continues to explore potential treatments, including gene therapy and pharmacological agents that target the underlying pathogenic mechanisms. Despite advances in understanding the molecular basis of these disorders, challenges remain in diagnosis and treatment, highlighting the need for further research and the development of safe and effective therapies.Collagen VI myopathies are a group of genetic disorders caused by mutations in the COL6A1, COL6A2, and COL6A3 genes, which encode collagen type VI (ColVI). These disorders present a clinical spectrum ranging from Ullrich congenital muscular dystrophy (UCMD) at one end to Bethlem myopathy (BM) at the other, with intermediate phenotypes in between. ColVI plays a critical structural role in connective tissues, particularly in skeletal muscle, where it supports cell adhesion, migration, and survival. Mutations in ColVI lead to impaired muscle function, joint contractures, and other symptoms, and are associated with mitochondrial dysfunction and defects in autophagy. Recent research has identified various mutations, including de novo dominant mutations and recessive mutations, which result in different clinical presentations. The diagnosis of ColVI myopathies involves molecular genetic testing, immunocytochemistry, and imaging techniques such as MRI. Therapeutic approaches are currently limited, but studies suggest that drugs like cyclosporin A may help improve mitochondrial function and reduce apoptosis. Research continues to explore potential treatments, including gene therapy and pharmacological agents that target the underlying pathogenic mechanisms. Despite advances in understanding the molecular basis of these disorders, challenges remain in diagnosis and treatment, highlighting the need for further research and the development of safe and effective therapies.