A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency

L Santoro; R Carrozzo; A Malandrini; F Piemonte; C Patrono; M Villanova; A Tessa; S Palmeri; E Bertini; F M Santorelli

doi:10.1016/s0960-8966(99)00122-4

A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency

Neuromuscul Disord. 2000 Aug;10(6):450-3. doi: 10.1016/s0960-8966(99)00122-4.

Authors

L Santoro¹, R Carrozzo, A Malandrini, F Piemonte, C Patrono, M Villanova, A Tessa, S Palmeri, E Bertini, F M Santorelli

Affiliation

¹ Department of Neurophysiopathology, Federico II University, Napoli, Italy.

PMID: 10899453
DOI: 10.1016/s0960-8966(99)00122-4

Abstract

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Biopsy
Cytochrome-c Oxidase Deficiency*
Electron Transport Complex IV / genetics
Humans
Infant, Newborn
Leigh Disease / genetics*
Leigh Disease / pathology*
Male
Membrane Proteins
Mitochondria / pathology
Mitochondrial Proteins
Muscle, Skeletal / enzymology
Muscle, Skeletal / pathology
Peripheral Nervous System Diseases / enzymology
Peripheral Nervous System Diseases / etiology
Peripheral Nervous System Diseases / pathology*
Point Mutation
Proteins / genetics*
Sural Nerve / pathology

Substances

Membrane Proteins
Mitochondrial Proteins
Proteins
Surf-1 protein
Electron Transport Complex IV