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

doi:10.1016/j.ymgmr.2013.12.001

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

Pediatrics - Genetics and Metabolism

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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 language	English (US)
Pages (from-to)	61-65
Number of pages	5
Journal	Molecular Genetics and Metabolism Reports
Volume	1
Issue number	1
DOIs	https://doi.org/10.1016/j.ymgmr.2013.12.001
State	Published - 2014

Keywords

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

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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.",

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AU - Granadillo, Jorge L.

AU - Moss, Timothy

AU - Lewis, Richard A.

AU - Austin, Elise G.

AU - Kelfer, Howard

AU - Wang, Jing

AU - Wong, Lee Jun C

AU - Scaglia, Fernando

PY - 2014

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AB - 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.

KW - Ataxia

KW - MT-TW gene

KW - Mitochondrial DNA

KW - Pigmentary retinopathy

KW - Sensorineural hearing loss

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

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