A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency.
We report on a 5-year-old boy with clinical and neuroradiological evidence of Leigh syndrome and peripheral neuropathy. Skeletal muscle biopsy showed decreased cytochrome c oxidase stain. Ultrastructurally, the nerve biopsy showed a defect of myelination. Biochemical analyses of muscle homogenate showed cytochrome c oxidase deficiency (15% residual activity). SURF1 gene analysis identified a novel homozygous nonsense mutation which predicts a truncated surf1 protein.
Santoro
L
L
Department of Neurophysiopathology, Federico II University, Napoli, Italy.
Carrozzo
R
R
Malandrini
A
A
Piemonte
F
F
Patrono
C
C
Villanova
M
M
Tessa
A
A
Palmeri
S
S
Bertini
E
E
Santorelli
F M
FM
D001706:Biopsy; D030401:Cytochrome-c Oxidase Deficiency; D003576:Electron Transport Complex IV / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007888:Leigh Disease / Q000235:genetics* / Q000473:pathology*; D008297:Male; D008565:Membrane Proteins; D008928:Mitochondria / Q000473:pathology; D024101:Mitochondrial Proteins; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology; D010523:Peripheral Nervous System Diseases / Q000201:enzymology / Q000209:etiology / Q000473:pathology*; D017354:Point Mutation; D011506:Proteins / Q000235:genetics*; D013497:Sural Nerve / Q000473:pathology
D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D011506:Proteins; C092928:Surf-1 protein; D003576:Electron Transport Complex IV