congenital muscular dystrophy due to integrin alpha-7 deficiency
Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency.
MONDO:0019950
congenital muscular dystrophy
is_a
ITGA7 congenital muscular dystrophy
exact
congenital muscular dystrophy caused by mutation in ITGA7
exact
congenital muscular dystrophy with ITGA7 deficiency
exact
congenital muscular dystrophy with integrin alpha-7 deficiency
exact
muscular dystrophy, congenital, due to ITGA7 deficiency
related