TY  - GEN
AU  - Felhi,Rahma
AU  - Sfaihi,Lamia
AU  - Charif,Majida
AU  - Desquiret-Dumas,Valerie
AU  - Bris,Céline
AU  - Goudenège,David
AU  - Ammar-Keskes,Leila
AU  - Hachicha,Mongia
AU  - Bonneau,Dominique
AU  - Procaccio,Vincent
AU  - Reynier,Pascal
AU  - Amati-Bonneau,Patrizia
AU  - Lenaers,Guy
AU  - Fakhfakh,Faiza
TI  - 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
SN  - 1873-3492
PY  - 2019///0301
KW  - Adolescent
KW  - Child
KW  - DNA Polymerase gamma
KW  - genetics
KW  - DNA, Mitochondrial
KW  - Humans
KW  - Intestinal Pseudo-Obstruction
KW  - Male
KW  - Mitochondrial Encephalomyopathies
KW  - Muscular Dystrophy, Oculopharyngeal
KW  - Mutation
KW  - Ophthalmoplegia
KW  - congenital
KW  - Optic Atrophy
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.cca.2018.11.003
ER  -