Subject
Genetics (clinical),Genetics,General Medicine
Reference5 articles.
1. Adult onset MELAS syndrome presenting as A mimic of herpes simplex encephalitis;Chen;Acta Neurol. Taiwan,2019
2. Whole exome sequencing identifies a homozygous POLG2 missense variant in an adult patient presenting with optic atrophy, movement disorders, premature ovarian failure and mitochondrial DNA depletion;Dosekova;Eur. J. Med. Genet.,2019
3. Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1;Ferraris;Arch. Neurol.,2008
4. Chorea-ballism as a dominant clinical manifestation in heteroplasmic mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome with A3251G mutation in mitochondrial genome: a case report;Lahiri;J. Med. Case Rep.,2019
5. A POLG2 homozygous mutation in an autosomal recessive epilepsy family without ophthalmoplegia;Lee;J. Clin. Neurol.,2019