ACTN2-related cardiac and skeletal myopathy
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.
MONDO:0100547
cardiogenetic disease
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MONDO:0700223
hereditary skeletal muscle disorder
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ACTN2 familial isolated dilated cardiomyopathy
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CMD1AA
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cardiomyopathy, dilated, 1AA, with or without LVNC
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cardiomyopathy, hypertrophic, 23, with or without LVNC
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dilated cardiomyopathy 1AA with or without left ventricular noncompaction
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dilated cardiomyopathy type 1AA
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familial isolated dilated cardiomyopathy caused by mutation in ACTN2
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SPAC15A10.08