Response to: Letter to the Editor Regarding: The Expanding Phenotype of MELAS Caused by the m.3291 T > C tRNA Mutation E Kelland, C. A. Rupar, Asuri N. Prasad, K. Y. Tay, A. Downie and C. Prasad (1) by Josef Finsterer, MD, PhD [1], Sinda Zarrouk-Mahjoub, PhD [2] [1] Krankenanstalt Rudolfstiftung, Vienna [2] Genomics Platform, Pasteur Institute of Tunis, Tunisia

E Kelland¹, C A Rupar², Asuri N Prasad³, K Y Tay⁴, A Downie⁵, C Prasad⁶

Affiliations

¹ Department of Pediatrics, Children's Hospital London Health Sciences Centre, London, Ontario, Canada.
² Department of Pediatrics, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Department of Biochemistry, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Department of Pathology and Laboratory Medicine, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Children's Health Research Institute, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Western University, Children's Hospital London Health Sciences Centre, London, Ontario, Canada.
³ Department of Pediatrics, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Department of Neurology, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Children's Health Research Institute, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Western University, Children's Hospital London Health Sciences Centre, London, Ontario, Canada.
⁴ Medical Imaging, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Western University, Children's Hospital London Health Sciences Centre, London, Ontario, Canada.
⁵ Western University, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Paediatric Psychology, Children's Hospital London Health Sciences Centre, London, Ontario, Canada.
⁶ Department of Pediatrics, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Children's Health Research Institute, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Western University, Children's Hospital London Health Sciences Centre, London, Ontario, Canada.

PMID: 27493879
PMCID: PMC4963257
DOI: 10.1016/j.ymgmr.2016.07.002

Response to: Letter to the Editor Regarding: The Expanding Phenotype of MELAS Caused by the m.3291 T > C tRNA Mutation E Kelland, C. A. Rupar, Asuri N. Prasad, K. Y. Tay, A. Downie and C. Prasad (1) by Josef Finsterer, MD, PhD [1], Sinda Zarrouk-Mahjoub, PhD [2] [1] Krankenanstalt Rudolfstiftung, Vienna [2] Genomics Platform, Pasteur Institute of Tunis, Tunisia

E Kelland et al. Mol Genet Metab Rep. 2016.

. 2016 Jul 15:8:41-2.

doi: 10.1016/j.ymgmr.2016.07.002. eCollection 2016 Sep.

Authors

E Kelland¹, C A Rupar², Asuri N Prasad³, K Y Tay⁴, A Downie⁵, C Prasad⁶

Affiliations

¹ Department of Pediatrics, Children's Hospital London Health Sciences Centre, London, Ontario, Canada.
² Department of Pediatrics, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Department of Biochemistry, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Department of Pathology and Laboratory Medicine, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Children's Health Research Institute, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Western University, Children's Hospital London Health Sciences Centre, London, Ontario, Canada.
³ Department of Pediatrics, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Department of Neurology, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Children's Health Research Institute, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Western University, Children's Hospital London Health Sciences Centre, London, Ontario, Canada.
⁴ Medical Imaging, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Western University, Children's Hospital London Health Sciences Centre, London, Ontario, Canada.
⁵ Western University, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Paediatric Psychology, Children's Hospital London Health Sciences Centre, London, Ontario, Canada.
⁶ Department of Pediatrics, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Children's Health Research Institute, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Western University, Children's Hospital London Health Sciences Centre, London, Ontario, Canada.

PMID: 27493879
PMCID: PMC4963257
DOI: 10.1016/j.ymgmr.2016.07.002

No abstract available

Keywords: MELAS.

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References

1. Keilland E., Rupar C.A., Prasad A.N., Tay K.Y., Downie A., Prasad C. The expanding phenotype of MELAS caused by the m.3291T > C mutation in the MT-TL1 gene. Mol. Genet. Metab. Rep. 2016;6:64–69. - PMC - PubMed
1. Finsterer J., Kothari S. Cardiac manifestations of primary mitochondrial disorders. Int. J. Cardiol. 2014;177:754–763. - PubMed
1. Finsterer J. Stroke and stroke-like episodes in muscle disease. Open Neurol J. 2012;6:26–36. - PMC - PubMed
1. Koga Y. Molecular pathology of MELAS and L-arginine effects. Biochim. Biophys. Acta. 2012;1820(5):608–614. (4) - PubMed
1. Emmanuele V. MERRF and Kearns-Sayre overlap syndrome due to the mitochondrial DNA m.3291TNC mutation. Muscle Nerve. 2011;44(3):448–451. - PMC - PubMed

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