autosomal recessive limb-girdle muscular dystrophy type 2G
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.
MONDO:0015152
autosomal recessive limb-girdle muscular dystrophy
is_a
MONDO:0016192
neuromuscular disease caused by qualitative or quantitative defects of telethonin
is_a
LGMD2G
exact
TCAP autosomal recessive limb-girdle muscular dystrophy
exact
Tcap autosomal recessive limb-girdle muscular dystrophy
exact
autosomal recessive limb-girdle muscular dystrophy caused by mutation in TCAP
exact
autosomal recessive limb-girdle muscular dystrophy caused by mutation in Tcap
exact
limb-girdle muscular dystrophy due to telethonin deficiency
exact
limb-girdle muscular dystrophy, type 2G
related
muscular dystrophy, limb-girdle, autosomal recessive 7
exact
muscular dystrophy, limb-girdle, type 2G
exact