Article
A novel MT-CO1 m.6498C>A variation associated with the m.7444G>A mutation in the mitochondrial COI/tRNA(Ser(UCN)) genes in a patient with hearing impairment, diabetes and congenital visual loss.
Biochemical and biophysical research communications - 11 Jan 2013
Mkaouar-Rebai Emna, Chamkha Imen, Kammoun Thouraya, Alila-Fersi Olfa, Aloulou Hajer, Hachicha Mongia, Fakhfakh Faiza
Abstract excerpt
Mitochondrial diseases are a clinically heterogeneous group of disorders that arise as a result of dysfunction of the mitochondrial respiratory chain. Sensorineural hearing loss (SNHL) has been described in association to different mitochondrial multisystem syndromes, often involving the central nervous system, neuromuscular, or endocrine organs. In this study, we described a Tunisian young girl with hearing...
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