Response to immunotherapy in a patient with adult onset Leigh syndrome and T9176C mtDNA mutation
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology
Reference29 articles.
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2. Leigh syndrome: clinical features and biochemical and DNA abnormalities;Rahman;Ann. Neurol.,1996
3. DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations;Chan;Biochim. Biophys. Acta,2009
4. Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA;Ferrari;Brain,2005
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1. Anti-AQP4–IgG-positive Leigh syndrome: A case report and review of the literature;Frontiers in Pediatrics;2023-02-06
2. Adult-onset Leigh Syndrome with a m.9176 T>C Mutation Manifested as Reversible Cerebral Vasoconstriction Syndrome;Internal Medicine;2023
3. Mitochondrial Myopathy in a 21-Year-Old Man Presenting With Bilateral Lower Extremity Weakness and Swelling;Journal of Primary Care & Community Health;2023-01
4. Adult-onset Leigh syndrome due to m.9176T>C mutation with cortical involvement;Annals of Clinical Neurophysiology;2022-10-31
5. The immune system as a driver of mitochondrial disease pathogenesis: a review of evidence;Orphanet Journal of Rare Diseases;2022-09-02
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