rs141970897 in
CRAT gene and
Ophthalmoplegia
PMID 31448845 2020 CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome.
rs374997012 in
TWNK;MRPL43 gene and
Ophthalmoplegia
PMID 27551684 2016 Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease.