Article
Mutational screening in patients with profound sensorineural hearing loss and neurodevelopmental delay: Description of a novel m.3861A > C mitochondrial mutation in the MT-ND1 gene.
Biochemical and biophysical research communications - 10 Jun 2016
Ammar Marwa, Tabebi Mouna, Sfaihi Lamia, Alila-Fersi Olfa, Maalej Marwa, Felhi Rahma, Chabchoub Imen, Keskes Leila, Hachicha Mongia, Fakhfakh Faiza, Mkaouar-Rebai Emna
Abstract excerpt
Mitochondrial diseases caused by mitochondrial dysfunction are a clinically and genetically, heterogeneous group of disorders involving multiple organs, particularly tissues with high-energy demand. Hearing loss is a recognized symptom of a number of mitochondrial diseases and can result from neuronal or cochlear dysfunction. The tissue affected in this pathology is most probably the cochlear hair cells, which...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.