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Article

Symmetric thalamic lesions in a patient with a myoclonic epilepsy with ragged red fibers-Leigh spectrum phenotype due to the m.A8344G mutation.

Pediatric neurology - 1 Dec 2014

Yang Hecheng, Lu Qiang, Cui Liying

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PMID: 25439498
DOI: 10.1016/j.pediatrneurol.2014.08.020

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Symmetric thalamic lesions in a patient with a myoclonic epilepsy with ragged red fibers-Leigh spectrum phenotype due to the m.A8344G mutation.PMID 25439498Read ↗

Late-onset Leigh syndrome with myoclonic epilepsy with ragged-red fibers.Semantic proximity Read ↗

[Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes / myoclonus epilepsy with ragged-red fibers /Leigh overlap syndrome caused by mitochondrial DNA 8344A>G mutation].Semantic proximity Read ↗

The myoclonic epilepsy and ragged-red fiber mutation provides new insights into human mitochondrial function and genetics.Semantic proximity Read ↗

Leigh disease with mitochondrial DNA A8344G mutation: case report and brief review.Semantic proximity Read ↗

When should MERRF (myoclonus epilepsy associated with ragged-red fibers) be the diagnosis?Semantic proximity Read ↗

Genetic heterogeneity of myoclonus epilepsy with ragged-red fibers syndrome.Semantic proximity Read ↗

Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation.Semantic proximity Read ↗

Teaching NeuroImages: Imaging phenotype of myoclonic epilepsy with ragged-red fibers.Semantic proximity Read ↗

Multimodal MRI in Leigh syndrome due to m.13513G > A.Semantic proximity Read ↗

Molecular Diagnosis of Myoclonus Epilepsy Associated with Ragged-Red Fibers Syndrome in the Absence of Ragged Red FibersSemantic proximity Read ↗

Lipomatosis and optic neuropathy clinches the diagnosis of myoclonic epilepsy with ragged red fibres (MERRF) syndrome.Semantic proximity Read ↗

The m.3890G>A/MT-ND1 mtDNA rare pathogenic variant: Expanding clinical and MRI phenotypes.Semantic proximity Read ↗

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