dilated cardiomyopathy 1X

A dilated cardiomyopathy that has_material_basis_in mutation in the FKTN gene on chromosome 9q31.

Signs and symptoms

• Elevated circulating creatine kinase activity
• Reduced left ventricular ejection fraction
• Increased left ventricular end-diastolic volume
• Dilated cardiomyopathy
• Calf muscle hypertrophy
• Gowers sign
• Proximal muscle weakness
• Increased variability in muscle fiber diameter

Also known as: CMD1X; dilated cardiomyopathy with mild or no proximal muscle weakness