autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3.
MONDO:0015151
muscular dystrophy, limb-girdle, autosomal dominant
is_a
DNAJB6 autosomal dominant limb-girdle muscular dystrophy
exact
LGMD1D
exact
LGMD1D (DNAJB6)
exact
LGMD1E
related
LGMD1E (Bushby and Beckmann, 2003)
related
autosomal dominant limb-girdle muscular dystrophy caused by mutation in DNAJB6
exact
autosomal dominant limb-girdle muscular dystrophy type 1E
related
limb-girdle muscular dystrophy type 1D
related
muscular dystrophy limb-girdle type 1E
related
muscular dystrophy, limb-girdle, autosomal dominant 1
exact
muscular dystrophy, limb-girdle, type 1D
related
muscular dystrophy, limb-girdle, type 1E
related
SPCC63.13