congenital myopathy 5

A congenital myopathy that is characterized by the onset of muscle weakness in infancy manifest as neonatal hypotonia, delayed motor development, and often distal contractures and that has_material_basis_in homozygous or compound heterozygous mutation in the g

A congenital myopathy that is characterized by the onset of muscle weakness in infancy manifest as neonatal hypotonia, delayed motor development, and often distal contractures and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding titin (TTN) on chromosome 2q31.

Signs and symptoms

• Myopathy
• Difficulty climbing stairs
• Motor delay
• Arrhythmia
• Weakness of facial musculature
• Severely reduced left ventricular ejection fraction
• Difficulty running
• Dilated cardiomyopathy
• Generalized muscle weakness
• Centrally nucleated skeletal muscle fibers

Also known as: Salih myopathy; congenital myopathy-5 with cardiomyopathy