mitochondrial DNA depletion syndrome 12a

A mitochondrial DNA depletion syndrome that is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 25 member 4 gene

A mitochondrial DNA depletion syndrome that is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 25 member 4 gene on chromosome 4q35.

Signs and symptoms

• Decreased activity of mitochondrial complex III
• Increased CSF lactate
• Depletion of mitochondrial DNA in muscle tissue
• Decreased activity of mitochondrial complex IV
• Lactic acidosis
• Decreased activity of mitochondrial complex I
• Hypertrophic cardiomyopathy
• Inability to walk
• Generalized hypotonia
• Respiratory insufficiency due to muscle weakness