autosomal recessive limb-girdle muscular dystrophy type 2J

An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the titin gene (TTN).

Signs and symptoms

• Elevated circulating creatine kinase activity
• Difficulty climbing stairs
• Fatty replacement of skeletal muscle
• Proximal muscle weakness
• Increased variability in muscle fiber diameter
• Skeletal muscle atrophy
• Distal muscle weakness
• Muscular dystrophy
• EMG: myopathic abnormalities
• Cardiomyopathy

Also known as: LGMD2J; muscular dystrophy, limb-girdle, type 2J