Proof of progression over time: Finally fulminant brain, muscle, and liver affection in Alpers syndrome associated with the A467T POLG1 mutation
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,Neurology,General Medicine
Reference10 articles.
1. POLG mutations and Alpers'syndrome;Davidzon;Ann Neurol,2005
2. Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-γ A;Ferrari;Brain,2005
3. Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene;Horvath;Brain,2006
4. Mitochondrial dysfunction in neurodegenerative disorders;Baron;Biochem Soc Trans,2007
5. Phenotypic variations in patients with linker-region mutations in the mitochondrial DNA polymerase gamma gene;Kornblum;Neuromuscul Disord,2007
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1. Molecular Genetics of DNA Polymerase Gamma‐associated Neurodegeneration;eLS;2016-11-15
2. Epilepsy due to mutations in the mitochondrial polymerase gamma (POLG) gene: A clinical and molecular genetic review;Epilepsia;2016-08-24
3. Early muscle and brain ultrastructural changes in polymerase gamma 1-related encephalomyopathy;Neuropathology;2012-04-27
4. Replication Pauses of the Wild-Type and Mutant Mitochondrial DNA Polymerase Gamma: A Simulation Study;PLoS Computational Biology;2011-11-17
5. Drug-resistant epilepsia and fulminant valproate liver toxicity. Alpers-Huttenlocher syndrome in two children confirmed post mortem by identification of p.W748S mutation in POLG gene;Medical Science Monitor;2011
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