Definition

A mitochondrial DNA depletion syndrome that is characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis, but normal mental development, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the acylglycerol kinase gene on chromosome 7q34.

Synonyms

mitochondrial DNA depletion syndrome 10
mitochondrial DNA depletion syndrome 10 (cardiomyopathic type)

Cross References

Parent Terms

Child Terms

None

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Sengers syndrome

Sengers syndrome

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