reducing body myopathy 1B

A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with late childhood or adult onset, and that

A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with late childhood or adult onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26.

Signs and symptoms

• Scoliosis
• Flexion contracture
• Muscle fiber intracytoplasmic reducing inclusion bodies
• Difficulty running
• Rimmed vacuoles
• Respiratory insufficiency due to muscle weakness
• Proximal muscle weakness
• Spinal rigidity
• Hyporeflexia
• Elevated circulating creatine kinase activity