Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion.

Felhi, Rahma

Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion. [electronic resource] - Clinica chimica acta; international journal of clinical chemistry Jan 2019 - 104-110 p. digital

Publication Type: Case Reports; Journal Article

1873-3492

10.1016/j.cca.2018.11.003 doi


Adolescent
Child
DNA Polymerase gamma--genetics
DNA, Mitochondrial--genetics
Humans
Intestinal Pseudo-Obstruction--genetics
Male
Mitochondrial Encephalomyopathies--genetics
Muscular Dystrophy, Oculopharyngeal
Mutation
Ophthalmoplegia--congenital
Optic Atrophy--genetics