What is Telethonin-related limb-girdle muscular dystrophy R7?
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.
Other condition names
Autosomal recessive limb-girdle muscular dystrophy type 2G
LGMD due to telethonin deficiency
LGMD type 2G
Limb-girdle muscular dystrophy due to telethonin deficiency