congenital myopathy 14

A congenital myopathy that is characterized by onset of severe muscle weakness apparent at birth and sometimes in utero and that has_material_basis_in homozygous mutation in the MYL1 gene on chromosome 2q32. Affected infants have difficulty breathing independe

A congenital myopathy that is characterized by onset of severe muscle weakness apparent at birth and sometimes in utero and that has_material_basis_in homozygous mutation in the MYL1 gene on chromosome 2q32. Affected infants have difficulty breathing independently and usually require mechanical ventilation for variable lengths of time.

Signs and symptoms

• Hypotonia
• Weakness of facial musculature
• Increased endomysial connective tissue
• Respiratory failure
• Axial muscle weakness
• Respiratory insufficiency due to muscle weakness
• Increased variability in muscle fiber diameter
• Flexion contracture
• Hip contracture
• Motor delay