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Clinical features

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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Clinical features include low IQ, cardiomegaly, heart failure and cardiomyopathy. There are large QRS complexes and a short PR interval. Blood sugar, lipids and ketones are normal.

In the classical infantile form of the disease, there is cardiac failure, gross hypotonia and death before 6 months.

In the juvenile form death is during childhood. There is also an adult form.

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