Document Detail

Mitochondrial tRNA valine as a recurrent target for mutations involved in mitochondrial cardiomyopathies.
MedLine Citation:
PMID:  21986556     Owner:  NLM     Status:  Publisher    
The aim of this study was to identify the genetic defect in two patients having cardiac dysfunction accompanied by neurological symptoms, and in one case MRI evidence of cortical and cerebellar atrophy with hyperintensities in the basal ganglia. Muscle biopsies from each patient revealed single and combined mitochondrial respiratory chain deficiency. The complete mtDNA sequencing of both patients revealed two transitions in the mitochondrial tRNA(Val) gene (MT-TV) (m.1628C>T in Patient 1, and m.1644G>A in Patient 2). The functional and molecular analyses reported here suggest that the MT-TV gene should be routinely considered in the diagnosis of mitochondrial cardiomyopathies.
Juan J Arredondo; M Esther Gallardo; Pablo García-Pavía; Verónica Domingo; Begoña Bretón; M Teresa García-Silva; M Jesús Sedano; Miguel A Martín; Joaquín Arenas; Margarita Cervera; Rafael Garesse; Belén Bornstein
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-10-1
Journal Detail:
Title:  Mitochondrion     Volume:  -     ISSN:  1872-8278     ISO Abbreviation:  -     Publication Date:  2011 Oct 
Date Detail:
Created Date:  2011-10-11     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  100968751     Medline TA:  Mitochondrion     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2011 Elsevier B.V. All rights reserved.
Departamento de Bioquímica, Instituto de Investigaciones Biomédicas Alberto Sols CSIC-UAM, Facultad de Medicina, Universidad Autónoma de Madrid, Spain.
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