hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation is a mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure.
MONDO:0016387
mitochondrial oxidative phosphorylation disorder
is_a
hypertrophic cardiomyopathy and renal tubular disease due to mtDNA mutation
exact