Article
Clinical and molecular characterization of three patients with Hepatocerebral form of mitochondrial DNA depletion syndrome: a case series.
BMC medical genetics - 29 Oct 2019
Mahjoub Ghazale, Habibzadeh Parham, Dastsooz Hassan, Mirzaei Malihe, Kavosi Arghavan, Jamali Laila, Javanmardi Haniyeh, Katibeh Pegah, Faghihi Mohammad Ali, Dastgheib Seyed Alireza
Abstract excerpt
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 of the respiratory chain. MDS is classified according to the type of affected tissue; the most common type is hepatocerebral...
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