Autosomal recessive limb-girdle muscular dystrophy type 2N
Autosomal recessive limb-girdle muscular dystrophy type 2N
Definition
Autosomal recessive limb-girdle muscular dystrophy type 2N (LGMD2N) is a form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence or mild intellectual disability.
Also known as autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT2, LGMD-POMT2 related, LGMD2N, MDDGC2, POMT2 autosomal recessive limb-girdle muscular dystrophy — per MONDO