mitochondrial DNA depletion syndrome 12b

A mitochondrial DNA depletion syndrome that is characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, muscle weakness, and atrophy, and has_material_basis_in autos

A mitochondrial DNA depletion syndrome that is characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, muscle weakness, and atrophy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the the solute carrier family 25 member 4 on chromosome 4q35.

Signs and symptoms

• Achilles tendon contracture
• Elevated circulating creatine kinase activity
• Mild intellectual disability
• Cataract
• Headache
• Cytochrome C oxidase-negative muscle fibers
• Nausea and vomiting
• Myalgia
• Multiple mitochondrial DNA deletions
• Hyperalaninemia