Leigh syndrome associated with mitochondrial DNA 8993 T → G mutation and ragged-red fibers

This publication has 11 references indexed in Scilit:

• Leigh syndrome with progressive ventriculomegaly
  Pediatric Neurology, 1994
• A T → C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome
  Neurology, 1994
• The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome
  Annals of Neurology, 1993
• A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome
  Annals of Neurology, 1993
• The Mitochondrial DNA Mutation at 8993 Associated with NARP Slows the Rate of ATP Synthesis in Isolated Lymphoblast Mitochondria
  Biochemical and Biophysical Research Communications, 1993
• Maternally inherited Leigh syndrome
  The Journal of Pediatrics, 1993
• Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples
  The Lancet, 1991
• Myelin splitting in the spongy lesion in Leigh encephalopathy
  Pediatric Neurology, 1991
• Cytochrome c oxidase deficiency in leigh syndrome
  Annals of Neurology, 1987
• Mitochondrial Encephalomyopathy
  Archives of Neurology, 1987