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Barth Syndrome  

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Tipo

  • mesh:Descriptor

Definición

  • Rare congenital X-linked disorder of lipid metabolism. Barth syndrome is transmitted in an X-linked recessive pattern. The syndrome is characterized by muscular weakness, growth retardation, DILATED CARDIOMYOPATHY, variable NEUTROPENIA, 3-methylglutaconic aciduria (type II) and decreases in mitochondrial CARDIOLIPIN level. Other biochemical and morphological mitochondrial abnormalities also exist.

Etiquetas alternativas

  • 3-Methylglutaconic Aciduria, Type II
  • 3-Methylglutaconicaciduria Type 2
  • 3-Methylglutaconicaciduria Type II
  • Cardioskeletal Myopathy with Neutropenia and Abnormal Mitochondria
  • MGA Type 2
  • MGA Type II

En otras lenguas

  • francés

  • Acidurie 3-méthylglutaconique de type 2
  • Acidurie 3-méthylglutaconique de type II
  • Myopathie cardiosquelettique-neutropénie

URI

http://data.loterre.fr/ark:/67375/JVR-PKKTLP82-G

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