glycogen storage disease XV

info · Genetic

A glycogen storage disease characterized by muscle weakness and cardiac abnormalities caused and has_material_basis_in mutation in the GYG1 gene that encodes glycogenin-1.

Signs and symptoms

Cardiomyocyte hypertrophy
Ventricular fibrillation
Paroxysmal ventricular tachycardia
Scapular winging
ST segment elevation
Complete right bundle branch block
T-wave inversion
Type 1 muscle fiber predominance
Muscle weakness

Also known as: Glycogen storage disease 15; Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency; glycogen storage disease type XV