What are the Different Types of Congenital Muscular Dystrophies?
There are several types of CMDs, each caused by mutations in different genes. Some of the main types include:
Merosin-deficient CMD: Caused by mutations in the LAMA2 gene, leading to a deficiency of the protein merosin. Ullrich CMD: Caused by mutations in the COL6A1, COL6A2, or COL6A3 genes, affecting collagen VI. Fukuyama CMD: Caused by mutations in the FKTN gene, leading to brain and muscle abnormalities. Walker-Warburg Syndrome: A severe form of CMD characterized by brain, eye, and muscle abnormalities, caused by mutations in multiple genes.
