Autosomal dominant limb-girdle muscular dystrophy type 1G
Autosomal dominant limb-girdle muscular dystrophy type 1G
Definition
Autosomal dominant limb-girdle muscular dystrophy (LGMD1G) is a mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed.
Also known as autosomal dominant limb-girdle muscular dystrophy caused by mutation in HNRNPDL, HNRNPDL autosomal dominant limb-girdle muscular dystrophy, LGMD1G, muscular dystrophy, limb-girdle, autosomal dominant 3 — per MONDO