A novel m.3395A>G missense mutation in the mitochondrial ND1 gene associated with the new tRNAIle m.4316A>G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss-Reference-Cited by-同舟云学术

A novel m.3395A>G missense mutation in the mitochondrial ND1 gene associated with the new tRNAIle m.4316A>G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss

Published:2011-01 Issue:1 Volume:404 Page:504-510
ISSN:0006-291X
Container-title:Biochemical and Biophysical Research Communications
language:en
Short-container-title:Biochemical and Biophysical Research Communications

Author:

Chamkha Imen,Mkaouar-Rebai Emna,Aloulou Hajer,Chabchoub Imen,Kifagi Chamseddine,Fendri-Kriaa Nourhene,Kammoun Thouraya,Hachicha Mongia,Fakhfakh Faiza

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Biochemistry,Biophysics

Reference43 articles.

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5. Mitochondrial complex I activity is significantly decreased in a patient with maternally inherited type 2 diabetes mellitus and hypertrophic cardiomyopathy associated with mitochondrial DNA C3310T mutation: a cybrid study;Chen;Diabetes Res. Clin. Pract.,2006

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5. Mutation m.3395A > G in MT-ND1 leads to variable pathologic manifestations;Human Molecular Genetics;2020-02-03