The expanding clinical phenotype of the tRNALeu(UUR) A→G mutation at np 3243 of mitochondrial DNA: Diabetic embryopathy associated with mitochondrial cytopathy
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference32 articles.
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2. VACTERL with the mitochondrial NP 3243 point mutation
3. Familial recurrence of atypical symptoms in an extended pedigree with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS)
4. Protection by free oxygen radical scavenging enzymes against glucose-induced embryonic malformations in vitro
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1. Neuropathological hallmarks in autopsied cases with mitochondrial diseases caused by the mitochondrial 3243A>G mutation;Brain Pathology;2023-08-03
2. MELAS in a Walk-in Customer;Journal of Neurosciences in Rural Practice;2019-10
3. Epilepsy Characteristics and Clinical Outcome in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS);Pediatric Neurology;2016-11
4. Clinical Phenotype and Segregation of Mitochondrial 3243A>G Mutation in 2 Pairs of Monozygotic Twins;JAMA Neurology;2016-08-01
5. Focal and Generalized Seizures May Occur in Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes (MELAS) Patients;Journal of Child Neurology;2015-01-30
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