Leigh disease associated with cytochrome c oxidase deficiency (LD [COX−] ) is one of the
most common disorders of the mitochondrial respiratory chain, in infancy and childhood. No …

Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL)
has recently been defined based on a highly characteristic constellation of …

We studied 6 mitochondrial enzymes in crude extracts and isolated mitochondria from 5 children
with pathologically proven subacute necrotizing encephalomyelopathy (Leigh syndrome…

Objective: To estimate at the national level the overall and diseasespecific incidence of inborn
errors of metabolism not mass screened at birth. Study design: Prospective nonconcurrent …

An isolated defect of respiratory chain complex I activity is a frequent biochemical abnormality
in mitochondrial disorders. Despite intensive investigation in recent years, in most …

We report mutations in SDHAF1, encoding a new LYR-motif protein, in infantile
leukoencephalopathy with defective succinate dehydrogenase (SDH, complex II). Disruption of the …

We investigated two male infant patients who were given a diagnosis of progressive mitochondrial
encephalomyopathy on the basis of clinical, biochemical, and morphological features. …

Objectives: Myoclonic epilepsy with ragged-red fibers (MERRF) is a rare mitochondrial
syndrome, mostly caused by the 8344A>G mitochondrial DNA mutation. Most of the previous …

Although mutations in CYTB (cytochrome b) or BCS1L have been reported in isolated defects
of mitochondrial respiratory chain complex III (cIII), most cIII-defective individuals remain …

We investigated two unrelated children with an isolated defect of mitochondrial complex III
activity. The clinical picture was characterized by a progressive encephalopathy featuring …