Autosomal recessive limb-girdle muscular dystrophy type 2Q
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Sign InDescription
Autosomal recessive limb-girdle muscular dystrophy-17 is characterized by early childhood onset of proximal muscle weakness and atrophy without skin involvement. One family has shown rapid progression of the disorder in adolescence (summary by Gundesli et al., 2010). For a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (253600).
Mode of Inheritance
- Autosomal recessive inheritance
VARIANTS
2,294