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01-05-2018 | Letter to Editor

Reply to ‘Letter to Editor by Finsterer J and Zarrouk-Mahjoub S: Phenotypic manifestations of the m.8969G>A variant’

Authors: Pirjo Isohanni, Christopher J. Carroll, Christopher B. Jackson, Max Pohjanpelto, Tuula Lönnqvist, Anu Suomalainen

Published in: Neurogenetics | Issue 2/2018

Excerpt

Sir, …

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(1):49–53. https://doi.org/10.1007/s10048-018-0537-9 CrossRefPubMed

Lin DDM, Crawford TO, Barker PB (2003) Proton MR spectroscopy in the diagnostic evaluation of suspected mitochondrial disease. AJNR Am J Neuroradiol 24(1):33–41PubMed

Chi C, Lee H, Tsai C, Chen W, Tung J, Hung H (2011) Lactate peak on brain MRS in children with syndromic mitochondrial diseases. J Chin Med Assoc 74(7):305–309. https://doi.org/10.1016/j.jcma.2011.05.006 CrossRefPubMed

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Yarham JW, Al-Dosary M, Blakely EL, Alston CL, Taylor RW, Elson JL, McFarland R (2011) A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations. Hum Mutat 32(11):1319–1325. https://doi.org/10.1002/humu.21575 CrossRefPubMed

Title: Reply to ‘Letter to Editor by Finsterer J and Zarrouk-Mahjoub S: Phenotypic manifestations of the m.8969G>A variant’
Authors: Pirjo Isohanni
Christopher J. Carroll
Christopher B. Jackson
Max Pohjanpelto
Tuula Lönnqvist
Anu Suomalainen
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/s10048-018-0542-z

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Springer Medicine

Reply to ‘Letter to Editor by Finsterer J and Zarrouk-Mahjoub S: Phenotypic manifestations of the m.8969G>A variant’

Excerpt

ACC 2024 Congress

Springer Medicine

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