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 language | English (US) |
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Pages (from-to) | 61-65 |
Number of pages | 5 |
Journal | Molecular Genetics and Metabolism Reports |
Volume | 1 |
Issue number | 1 |
DOIs | |
State | Published - 2014 |
Keywords
- Ataxia
- MT-TW gene
- Mitochondrial DNA
- Pigmentary retinopathy
- Sensorineural hearing loss