Cardiomyopathy and mitochondrial encephalomyopathy in a female child associated with a heterozygous X-linked AIFM1 variant
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Background: AIFM1 encodes the X-linked oxidoreductase 'apoptosis-inducing factor 1, mitochondrial' that mediates caspase-independent programmed cell death and is involved in redox metabolism. To date, cardiac involvement has be... ...
