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

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

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...

Full description

Bibliographic Details
Main Authors: Jorge L. Granadillo, Timothy Moss, Richard A. Lewis, Elise G. Austin, Howard Kelfer, Jing Wang, Lee-Jun C. Wong, Fernando Scaglia
Format: Article
Language:English
Published: Elsevier 2014-01-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Mitochondrial DNA
MT-TW gene
Sensorineural hearing loss
Ataxia
Pigmentary retinopathy
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426913000062
Description
Summary: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.
ISSN:2214-4269

Similar Items