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Barthov syndróm

  1. Subject h.Barthov syndróm
    Subject h.Barth Syndrome
    Scope note in EnglishRare 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.
    See also reference (FX) in Slovak komora ľavá nekompaktná izolovaná
    See also reference (FX) in English Isolated Noncompaction of the Ventricular Myocardium
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Number of the records: 1  

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