Collagen related muscle diseases

Collagen 6 congenital muscular dystrophy (Col6-CMD) is a rare disease, which particularly affects the skeletal muscle and connective tissue. The phenotypic spectrum includes Bethlem Myopathy (mild) and Ullrich congenital muscular dystrophy (severe) that are connected by a continuum of intermediate phenotypes. The disease is caused by dominant-negative and recessive mutations in COL6A1, -A2, -A3 and in rare cases by mutations in COL12A1.Collagen VI (COL6) plays an important role in the extracellular matrix (ECM) of skeletal muscle but also in the ECMs of skin, tendon, cartilage, intervertebral discs, lenses, inner organs and blood vessels.

Source: Neuromuscular Disorders - September 19, 2021 Category: Neurology Authors: N. Odenthal, V. Vedder, M. Behrensen, F. Haarich, J. Erdmann Source Type: research