Intractable Epilepsy in Maternally Inherited Leigh Syndrome (MILS) Due to the Sporadic Variant m.8993T>G in MT-ATP6: A Case Report
Author:
Publisher
Cureus, Inc.
Subject
Aerospace Engineering
Reference10 articles.
1. Leigh syndrome: a tale of two genomes;Bakare AB;Front Physiol,2021
2. Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation;Shoffner JM;Neurology,1992
3. High mitochondrial DNA T8993G mutation (<90%) without typical features of Leigh's and NARP syndromes;Tsao CY;J Child Neurol,2001
4. A T-to-G mutation at nucleotide pair 8993 in mitochondrial DNA in a patient with Leigh's syndrome;Yoshinaga H;J Child Neurol,1993
5. Epilepsy in MT-ATP6 - related mils/NARP: correlation of elettroclinical features with heteroplasmy;Licchetta L;Ann Clin Transl Neurol,2021
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