mitochondrial DNA depletion syndrome 2

A mitochondrial DNA depletion syndrome that is characterized by childhood onset of muscle weakness associated with depletion of mtDNA in skeletal muscle, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation

A mitochondrial DNA depletion syndrome that is characterized by childhood onset of muscle weakness associated with depletion of mtDNA in skeletal muscle, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial thymidine kinase gene on chromosome 16q21.

Signs and symptoms

• Elevated circulating creatine kinase activity
• Generalized hypotonia
• Respiratory insufficiency due to muscle weakness
• Inability to walk
• Hearing impairment
• Aminoaciduria
• Seizure
• Hypotonia
• Limb muscle weakness
• Gowers sign

Also known as: TK2-related mitochondrial DNA depletion syndrome, myopathic form