congenital myopathy 16

A congenital myopathy that is characterized by onset of hypotonia and tremor in infancy and that has_material_basis_in heterozygous mutation in the MYBPC1 gene on chromosome 12q23. Patients have mildly delayed walking, unsteady gait, proximal muscle weakness,

A congenital myopathy that is characterized by onset of hypotonia and tremor in infancy and that has_material_basis_in heterozygous mutation in the MYBPC1 gene on chromosome 12q23. Patients have mildly delayed walking, unsteady gait, proximal muscle weakness, and a high-frequency tremor of the limbs.

Signs and symptoms

• Flexion contracture
• EMG: myopathic abnormalities
• Postural tremor
• Axial muscle weakness
• Scoliosis
• Distal muscle weakness
• Proximal muscle weakness
• Tongue tremor
• Scapular winging
• Lumbar hyperlordosis