Autosomal dominant limb-girdle muscular dystrophy type 1G

MONDO:0012193

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: HNRNPDL autosomal dominant limb-girdle muscular dystrophy, LGMD1G, autosomal dominant limb-girdle muscular dystrophy caused by mutation in HNRNPDL, muscular dystrophy, limb-girdle, autosomal dominant 3, limb-girdle muscular dystrophy type 1G, limb-girdle muscular dystrophy, type 1G

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