Article
The mitochondrial ND1 m.3337G>A mutation associated to multiple mitochondrial DNA deletions in a patient with Wolfram syndrome and cardiomyopathy.
Biochemical and biophysical research communications - 29 Jul 2011
Mezghani Najla, Mnif Mouna, Mkaouar-Rebai Emna, Kallel Nozha, Salem Ikhlass Haj, Charfi Nadia, Abid Mohamed, Fakhfakh Faiza
Abstract excerpt
Wolfram syndrome (WFS) is a rare hereditary disorder also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). It is a heterogeneous disease and full characterization of all clinical and biological features of this disorder is difficult. The wide spectrum of clinical expression, affecting several organs and tissues, and the similarity in phenotype between patients with Wolfram...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.