POLG1 manifestations in childhood.

Abstract

OBJECTIVE Mitochondrial DNA polymerase γ (POLG1) mutations in children often manifest as Alpers syndrome, whereas in adults, a common manifestation is mitochondrial recessive ataxia syndrome (MIRAS) with severe epilepsy. Because some patients with MIRAS have presented with ataxia or epilepsy already in childhood, we searched for POLG1 mutations in… (More)
DOI: 10.1212/WNL.0b013e31820e7b25

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