Autosomal recessive limb-girdle muscular dystrophy type 2G
Autosomal recessive limb-girdle muscular dystrophy type 2G
Definition
Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed.
Also known as autosomal recessive limb-girdle muscular dystrophy caused by mutation in TCAP, LGMD2G, limb-girdle muscular dystrophy due to telethonin deficiency, muscular dystrophy, limb-girdle, autosomal recessive 7, muscular dystrophy, limb-girdle, type 2G, TCAP autosomal recessive limb-girdle muscular dystrophy — per MONDO