autosomal recessive hyaline body myopathy

A hyaline body myopathy that has_material_basis_in compound heterozygous or homozygous mutation in MYH7 on 14q11.2.

Signs and symptoms

• Elevated circulating creatine kinase activity
• Short stature
• Muscle fiber hyaline bodies
• Scoliosis
• Hypertrophic cardiomyopathy
• Thoracic scoliosis
• EMG: myopathic abnormalities
• Exertional dyspnea
• Biventricular hypertrophy
• Elevated jugular venous pressure

Also known as: MSMB; Myopathy, myosin storage, autosomal recessive; autosomal recessive myosin storage congenital myopathy 7B; congenital myopathy 7B