Autosomal dominant limb-girdle muscular dystrophy type 1H (LGMD1H) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by slowly progressive proximal muscular weakness initially affecting the lower limbs (and later involving the upper limbs), hypotrophy of upper and lower limb-girdle muscles, hyporeflexia, calf hypertrophy, and increased serum creatine kinase. There is no involvement of oculo-facial-bulbar muscles and cardiac muscle.
Comprehensive, easy-to-understand information about this condition
Checking for content...
autosomal dominant limb-girdle muscular dystrophy type 1F
MONDO:0012034
autosomal dominant limb-girdle muscular dystrophy type 1G
MONDO:0012193
myofibrillar myopathy 3
MONDO:0012215
autosomal dominant limb-girdle muscular dystrophy type 1E (DES)
MONDO:0018098
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
MONDO:0021018
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
MONDO:0021569