autosomal recessive limb-girdle muscular dystrophy type 2C

An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gamma-sarcoglycan gene (SGCG) on chromosome 13q12.

Signs and symptoms

• Skeletal muscle atrophy
• Muscle fiber splitting
• Restrictive ventilatory defect
• Increased endomysial connective tissue
• Loss of ambulation
• Type 1 muscle fiber predominance
• Increased variability in muscle fiber diameter
• Flexion contracture
• Muscular dystrophy
• Gowers sign

Also known as: DMDA1; LGMD2C; Maghrebian myopathy; SCARMD; autosomal recessive Duchenne-like muscular dystrophy type 1