autosomal recessive limb-girdle muscular dystrophy type 2Q
A form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases.
MONDO:0015152
autosomal recessive limb-girdle muscular dystrophy
is_a
MONDO:0016198
neuromuscular disease caused by qualitative or quantitative defects of plectin
is_a
MONDO:1060109
PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder
is_a
LGMD2Q
exact
limb-girdle muscular dystrophy type 2Q
related
muscular dystrophy, limb-girdle, autosomal recessive 17
exact
muscular dystrophy, limb-girdle, type 2Q
exact