Mitochondrial ND5 mutations mimicking brainstem tectal glioma.
Rio
M
M
Département de Génétique, Tour Lavoisier 2 étage, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75015 Paris, France. marlene.rio@nck.aphp.fr
Lebre
A S
AS
de Lonlay
P
P
Valayannopoulos
V
V
Desguerre
I
I
Dufier
J-L
JL
Grévent
D
D
Zilbovicius
M
M
Tréguier
C
C
Brunelle
F
F
de Baracé
C
C
Kaplan
J
J
Espinase-Berrod
M A
MA
Sainte-Rose
C
C
Puget
S
S
Rotig
A
A
Munnich
A
A
Boddaert
N
N
D020295:Brain Stem Neoplasms / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D003937:Diagnosis, Differential; D042967:Electron Transport Complex I / Q000235:genetics*; D005910:Glioma / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008928:Mitochondria / Q000235:genetics*; D024101:Mitochondrial Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D003336:Tectum Mesencephali / Q000473:pathology*
D024101:Mitochondrial Proteins; C481838:MT-ND5 protein, human; D042967:Electron Transport Complex I