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

Internet

http://www.sciencedirect.com/science/article/pii/S2214426913000062

Similar Items