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Neurogenetics

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01-05-2018 | Letter to Editor

Phenotypic manifestations of the m.8969G>A variant

Authors: Josef Finsterer, Sinda Zarrouk-Mahjoub

Published in: Neurogenetics | Issue 2/2018

Excerpt

Letter to the Editor …

Isohanni P, Carroll CJ, Jackson CB, Pohjanpelto M, Lönnqvist T, Suomalainen A (2018) Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation-causing lactic acidosis, intellectual disability, and poor growth. Neurogenetics 19:49–53. https://doi.org/10.1007/s10048-018-0537-9 CrossRefPubMed

Finsterer J, Zarrouk-Mahjoub S, Shoffner JM (2017) MERRF classification: implications for diagnosis, and clinical trials. Pediatr Neurol. https://doi.org/10.1016/j.pediatrneurol.2017.12.005 CrossRefPubMed

Kaufman KR, Zuber N, Rueda-Lara MA, Tobia A (2010) MELAS with recurrent complex partial seizures, nonconvulsive status epilepticus, psychosis, and behavioral disturbances: case analysis with literature review. Epilepsy Behav 18:494–497CrossRefPubMed

Finsterer J, Bindu PS (2015) Therapeutic strategies for mitochondrial disorders. Pediatr Neurol 52:302–313CrossRefPubMed

Bianco A, Bisceglia L, Russo L, Palese LL, D’Agruma L, Emperador S, Montoya J, Guerriero S, Petruzzella V (2017) High mitochondrial DNA copy number is a protective factor from vision loss in heteroplasmic Leber’s hereditary optic neuropathy (LHON). Invest Ophthalmol Vis Sci 58:2193–2197CrossRefPubMed

Finsterer J, Mancuso M, Pareyson D, Burgunder JM, Klopstock T (2017) Mitochondrial disorders of the retinal ganglion cells and the optic nerve. Mitochondrion. https://doi.org/10.1016/j.mito.2017.10.003 CrossRefPubMed

Title: Phenotypic manifestations of the m.8969G>A variant
Authors: Josef Finsterer
Sinda Zarrouk-Mahjoub
Publication date: 01-05-2018
Publisher: Springer Berlin Heidelberg
Published in: Neurogenetics / Issue 2/2018
Print ISSN: 1364-6745
Electronic ISSN: 1364-6753
DOI: https://doi.org/10.1007/s10048-018-0543-y

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Phenotypic manifestations of the m.8969G>A variant

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