autosomal recessive limb-girdle muscular dystrophy type 29

An autosomal recessive limb-girdle muscular dystrophy characterized by onset of muscle weakness predominantly affecting the proximal lower limbs, although upper limb involvement also occurs that has_material_basis_in homozygous or compound heterozygous mutatio

An autosomal recessive limb-girdle muscular dystrophy characterized by onset of muscle weakness predominantly affecting the proximal lower limbs, although upper limb involvement also occurs that has_material_basis_in homozygous or compound heterozygous mutation in the SNUPN gene on chromosome 15q24.

Signs and symptoms

• Abnormal muscle fiber morphology
• Hand muscle weakness
• Difficulty climbing stairs
• Increased endomysial connective tissue
• Difficulty running
• Proximal lower limb muscle weakness
• Abnormal Z disk morphology
• Unsteady gait
• Proximal upper limb muscle weakness
• Accumulation of muscle fiber myotilin

Also known as: LGMDR29