mitochondrial DNA depletion syndrome 14

A mitochondrial DNA depletion syndrome that is characterized by severe lethal infantile mitochondrial encephalomyopathy and hypertrophic cardiomyopathy, with hypotonia and peripheral hypertonia with opisthotonic posturing, as well as feeding difficulties and p

A mitochondrial DNA depletion syndrome that is characterized by severe lethal infantile mitochondrial encephalomyopathy and hypertrophic cardiomyopathy, with hypotonia and peripheral hypertonia with opisthotonic posturing, as well as feeding difficulties and profound neurodevelopmental delay, and has_material_basis_in homozygous mutation in the OPA1 mitochondrial dynamin like GTPase gene on chromosome 3q29.

Signs and symptoms

• Opisthotonus
• Hypertonia
• Increased circulating lactate concentration
• Profound global developmental delay
• Decreased activity of mitochondrial complex I
• Depletion of mitochondrial DNA in muscle tissue
• Hypertrophic cardiomyopathy
• Feeding difficulties in infancy
• Decreased activity of mitochondrial complex IV
• Optic atrophy