autosomal dominant limb-girdle muscular dystrophy type 1G
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.
MONDO:0015151
muscular dystrophy, limb-girdle, autosomal dominant
is_a
HNRNPDL autosomal dominant limb-girdle muscular dystrophy
exact
LGMD1G
exact
autosomal dominant limb-girdle muscular dystrophy caused by mutation in HNRNPDL
exact
limb-girdle muscular dystrophy type 1G
related
limb-girdle muscular dystrophy, type 1G
related
muscular dystrophy, limb-girdle, autosomal dominant 3
exact