autosomal recessive limb-girdle muscular dystrophy type 2L

An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ANO5 gene on chromosome 11p14.

Signs and symptoms

• Elevated circulating creatine kinase activity
• Pelvic girdle muscle weakness
• Proximal muscle weakness
• Quadriceps muscle atrophy
• Facial palsy
• Muscular dystrophy
• Increased connective tissue
• Shoulder girdle muscle weakness
• EMG: myopathic abnormalities
• Myalgia

Also known as: LGMD2L; muscular dystrophy, limb-girdle, type 2L