Article
A maternally inherited diabetes and deafness patient with the 12S rRNA m.1555A>G and the ND1 m.3308T>C mutations associated with multiple mitochondrial deletions.
Biochemical and biophysical research communications - 22 Feb 2013
Mezghani Najla, Mnif Mouna, Mkaouar-Rebai Emna, Kallel Nozha, Charfi Nadia, Abid Mohamed, Fakhfakh Faiza
Abstract excerpt
Maternally inherited diabetes and deafness (MIDD) is a mitochondrial syndrome characterized by the onset of sensorineural hearing loss and diabetes in adults. Some patients may have other additional clinical features common in mitochondrial disorders such as pigmentary retinopathy, ptosis, cardiomyopathy, myopathy and renal affections. We report a 40-year-old Tunisian patient presenting maternally inherited type...
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