Mutations in the nuclear SURF1 gene are specifically associated with cytochrome c oxidase
(COX)-deficient Leigh syndrome. MR imaging abnormalities in three children with this …

Leigh syndrome is an inherited, progressive neurodegenerative disorder of infancy and
childhood. Mutations in the nuclear SURF-1 gene are specifically associated with …

BACKGROUND AND PURPOSE: In a large number of patients with Leigh syndrome (LS)
and cytochrome c oxidase (COX) deficiency, mutations of the SURF-1 gene were recently …

Mutations in SURF1, a gene involved in cytochrome‐c oxidase (COX) assembly, cause COX
deficiency and Leigh Syndrome (LS). Typical presentation is in the first year of life, with …

Background: Mutation in the SURF1 is one of the most common nuclear mutations
associated with Leigh syndrome and cytochrome c oxidase deficiency. This study aims to …

Mutations of SURF‐1, a gene located on chromosome 9q34, have recently been identified in
patients affected by Leigh syndrome (LS), associated with deficiency of cytochrome c …

Cytochrome c oxidase (COX) deficiency is one of the major causes of Leigh Syndrome (LS),
a fatal encephalopathy of infancy or childhood, characterized by symmetrical lesions in the …

Leigh syndrome (LS) is one of the most frequent forms of mitochondrial disease in infancy
and childhood. Mutations in SURF1 have been shown to be an important cause of LS with …

We report a 16-month-old boy with psychomotor regression, muscle hypotonia, peripheral
neuropathy, and lactic acidosis. Brain magnetic resonance imaging showed a bilateral …

Leigh syndrome is a rare pediatric neurodegenerative disorder attributed to impaired
mitochondrial energy metabolism. Mutations in SURF1 have been described in several …