Early onset and severe clinical course associated with the m.5540G>A mutation in MT-TW

Jorge L. Granadillo, Timothy Moss, Richard A. Lewis, Elise G. Austin, Howard Kelfer, Jing Wang, Lee Jun C Wong, Fernando Scaglia

Research output: Contribution to journalArticle

2 Scopus citations

Abstract

We report a patient harboring a de novo m.5540G>A mutation affecting the MT-TW gene coding for the mitochondrial tryptophan-transfer RNA. This patient presented with atonic-myoclonic epilepsy, bilateral sensorineural hearing loss, ataxia, motor regression, ptosis, and pigmentary retinopathy. Our proband had an earlier onset and more severe phenotype than the first reported patient harboring the same mutation. We discuss her clinical presentation and compare it with the only previously published case.

Original languageEnglish (US)
Pages (from-to)61-65
Number of pages5
JournalMolecular Genetics and Metabolism Reports
Volume1
Issue number1
DOIs
StatePublished - 2014

Keywords

  • Ataxia
  • MT-TW gene
  • Mitochondrial DNA
  • Pigmentary retinopathy
  • Sensorineural hearing loss

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    Granadillo, J. L., Moss, T., Lewis, R. A., Austin, E. G., Kelfer, H., Wang, J., Wong, L. J. C., & Scaglia, F. (2014). Early onset and severe clinical course associated with the m.5540G>A mutation in MT-TW. Molecular Genetics and Metabolism Reports, 1(1), 61-65. https://doi.org/10.1016/j.ymgmr.2013.12.001