autosomal recessive limb-girdle muscular dystrophy type 2Q — Definition

Otozomal resesif limb-girdle musküler distrofi tip 2Q; otozomal resesif limb-girdle muscular dystrophy type 2Q is a rare muscle disease caused by mutations in PLEC1 gene. This disease is characterized by numbness and melting, especially in muscles around the shoulder and hip. Symptoms often begin during childhood or adolescence and can lead to walking power over time. Since Otozomal resesif inherited, it is necessary to pass mutational gene from both parents to the emergence of the disease.

The Turkish equivalent of "autosomal recessive limb-girdle muscular dystrophy type 2Q" is Otozomal resesif limb-girdle musküler distrofi tip 2Q.

This term belongs to the Diseases category.