/ACTN2-related cardiac and skeletal myopathy

ACTN2-related cardiac and skeletal myopathy

Rare Disease

MONDO:0700349

Also Known As

ACTN2 familial isolated dilated cardiomyopathyCMD1AAcardiomyopathy, dilated, 1AA, with or without LVNCcardiomyopathy, hypertrophic, 23, with or without LVNCdilated cardiomyopathy 1AA with or without left ventricular noncompactiondilated cardiomyopathy type 1AAfamilial isolated dilated cardiomyopathy caused by mutation in ACTN2

Definition

A cardiac and skeletal muscle disorder caused by variation in the gene ACTN2. Cardiac features include but are not limited to cardiac features such as dilated cardiomyopathy, hypertrophic cardiomyopathy, restrictive cardiomyopathy, arrhythmias, left ventricular non-compaction, and left-dominant arrhythmogenic cardiomyopathy. Skeletal features include but are not limited to progressive distal and/or proximal muscle weakness, gait disturbance, muscle atrophy, and elevated creatine kinase.