Disease: Cerebellar ataxia infantile with progressive external ophthalmoplegia
- Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathy
- Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease
- Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky
- Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes
- Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum
- Recessive twinkle mutations cause severe epileptic encephalopathy
- Spinocerebellar ataxia type 2 (SCA2) presenting with ophthalmoplegia and developmental delay in infancy