Clinical and molecular characterization of three patients with Hepatocerebral form of mitochondrial DNA depletion syndrome: a case series

• Main Authors: Ghazale Mahjoub (Author), Parham Habibzadeh (Author), Hassan Dastsooz (Author), Malihe Mirzaei (Author), Arghavan Kavosi (Author), Laila Jamali (Author), Haniyeh Javanmardi (Author), Pegah Katibeh (Author), Mohammad Ali Faghihi (Author), Seyed Alireza Dastgheib (Author)
• Format: Book
• Published: BMC, 2019-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Mitochondrial DNA depletion syndromes (MDS) are clinically and phenotypically heterogeneous disorders resulting from nuclear gene mutations. The affected individuals represent a notable reduction in mitochondrial DNA (mtDNA) content, which leads to malfunction of the components o...