Genetic Test
COLQ (Collagen Like Tail Subunit Of Asymmetric Acetylcholinesterase) is a gene that produces a collagen-like protein and plays a role in anchoring the acetylcholinesterase (AChE) enzyme, which is important for neural signal transmission, to nerve cells. This test targets a single gene variant associated with limb-girdle muscular dystrophy.
Disease Description
Limb-girdle muscular dystrophy is a genetic disorder characterized by progressive weakening of the skeletal muscles. When a mutation occurs in the COLQ gene, which is crucial for neural transmission, it leads to impaired synaptic signaling at the neuromuscular junction, resulting in muscle disorders.
