Atypical Leigh syndrome associated with the D393N mutation in the mitochondrial ND5 subunit.
Petruzzella
V
V
Department of Medical Biochemistry & Medical Biology, University of Bari, Italy.
Di Giacinto
G
G
Scacco
S
S
Piemonte
F
F
Torraco
A
A
Carrozzo
R
R
Vergari
R
R
Dionisi-Vici
C
C
Longo
D
D
Tessa
A
A
Papa
S
S
Bertini
E
E
D019943:Amino Acid Substitution; D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D018450:Disease Progression; D042967:Electron Transport Complex I / Q000235:genetics*; D006801:Humans; D007558:Italy; D007888:Leigh Disease / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D008928:Mitochondria / Q000201:enzymology* / Q000235:genetics; D024101:Mitochondrial Proteins; D009154:Mutation; D021122:Protein Subunits / Q000235:genetics
D024101:Mitochondrial Proteins; D021122:Protein Subunits; C481838:MT-ND5 protein, human; D042967:Electron Transport Complex I