mitochondrial myopathy and ataxia

A mitochondrial DNA depletion syndrome characterized by cerebellar ataxia, congenital muscle involvement with histologic findings ranging from myopathic to dystrophic, and pigmentary retinopathy that has_material_basis_in homozygous or compound heterozygous mu

A mitochondrial DNA depletion syndrome characterized by cerebellar ataxia, congenital muscle involvement with histologic findings ranging from myopathic to dystrophic, and pigmentary retinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the MSTO1 gene on chromosome 1q22.

Signs and symptoms

• Multiple lipomas
• Elevated circulating creatine kinase activity
• Inability to walk
• Mild intellectual disability
• Hearing impairment
• Dysmetria
• Pallor
• Short stature
• Distal amyotrophy
• Pigmentary retinopathy