Article
A novel m.3395A>G missense mutation in the mitochondrial ND1 gene associated with the new tRNA(Ile) m.4316A>G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss.
Biochemical and biophysical research communications - 7 Jan 2011
Chamkha Imen, Mkaouar-Rebai Emna, Aloulou Hajer, Chabchoub Imen, Kifagi Chamseddine, Fendri-Kriaa Nourhene, Kammoun Thouraya, Hachicha Mongia, Fakhfakh Faiza
Abstract excerpt
Mitochondria are essential for early cardiac development and impaired regulation of mitochondrial function was implicated in congenital heart diseases. We described a newborn girl with hypertrophic cardiomyopathy and profound hearing loss. The mtDNA mutational analysis revealed the presence of kn...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.