GTR Home > Conditions/Phenotypes > Limb-girdle muscular dystrophy, type 1H


Limb-girdle muscular dystrophy type 1H (LGMD1H) is an autosomal dominant disorder characterized by adult onset of progressive proximal muscle weakness affecting both the upper and lower limbs (Bisceglia et al., 2010). For a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant limb-girdle muscular dystrophy, see LGMD1A (159000). [from OMIM]

Clinical features

  • Muscle weakness
  • Hyporeflexia
  • Calf muscle hypertrophy
  • Shoulder girdle muscle atrophy
  • Increased connective tissue
  • Elevated serum creatine phosphokinase
  • Centrally nucleated skeletal muscle fibers
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