TY  - GEN
AU  - Charif,Majida
AU  - Titah,Salah Mohamed Cherif
AU  - Roubertie,Agathe
AU  - Desquiret-Dumas,Valérie
AU  - Gueguen,Naig
AU  - Meunier,Isabelle
AU  - Leid,Jean
AU  - Massal,Frédéric
AU  - Zanlonghi,Xavier
AU  - Mercier,Jacques
AU  - Raynaud de Mauverger,Eric
AU  - Procaccio,Vincent
AU  - Mousson de Camaret,Bénédicte
AU  - Lenaers,Guy
AU  - Hamel,Christian P
TI  - Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant
SN  - 1552-4833
PY  - 2016///0609
KW  - Adult
KW  - Cardiomyopathies
KW  - complications
KW  - Carrier Proteins
KW  - genetics
KW  - DNA Mutational Analysis
KW  - Electron Transport Complex I
KW  - Electron Transport Complex II
KW  - Electron Transport Complex III
KW  - Electron Transport Complex IV
KW  - Female
KW  - Gene Expression
KW  - Homozygote
KW  - Humans
KW  - Intellectual Disability
KW  - Male
KW  - Membrane Potential, Mitochondrial
KW  - Middle Aged
KW  - Mitochondria
KW  - metabolism
KW  - Mutation
KW  - Optic Disk
KW  - Optic Nerve Diseases
KW  - Pedigree
KW  - RNA, Transfer, Phe
KW  - RNA-Binding Proteins
KW  - Visual Acuity
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/ajmg.a.37188
ER  -