Titre:
  • Friedreich's ataxia associated with mitochondrial myopathy: clinicopathologic report.
Auteur:Gallagher, Catherine L; Waclawik, Andrew J; Beinlich, Brad R; Harding, Cary O; Pauli, Richard M; Poirer, Josée; Pandolfo, Massimo; Salamat, M Shahriar
Informations sur la publication:Journal of child neurology, 17, 6, page (453-456)
Statut de publication:Publié, 2002-06
Sujet CREF:Sciences bio-médicales et agricoles
MeSH keywords:Adolescent
Autopsy
Biopsy
Carnitine -- therapeutic use
DNA, Mitochondrial -- analysis
Disease Progression
Friedreich Ataxia -- complications
Friedreich Ataxia -- drug therapy
Friedreich Ataxia -- genetics
Friedreich Ataxia -- pathology
Humans
Iron-Binding Proteins -- genetics
Iron-Binding Proteins -- metabolism
Male
Microscopy, Electron
Mitochondria, Muscle -- genetics
Mitochondria, Muscle -- pathology
Mitochondrial Myopathies -- genetics
Muscle, Skeletal -- pathology
Mutation
Pedigree
Phenotype
Note générale:Case Reports
Journal Article
Langue:Anglais
Identificateurs:urn:issn:0883-0738
info:pmid/12174969