An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes.

@article{Barth1983AnXM,
  title={An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes.},
  author={Peter G. Barth and Hans R. Scholte and Jan A. Berden and J M van der Klei-van Moorsel and I. E. M. Luyt-Houwen and E T van 't Veer-Korthof and J J van der Harten and Martha A Sobotka-Plojhar},
  journal={Journal of the neurological sciences},
  year={1983},
  volume={62 1-3},
  pages={327-55}
}
An X-linked recessive disease is reported in a large pedigree. The disease is characterised by a triad of dilated cardiomyopathy, neutropenia and skeletal myopathy. The untreated patients, all boys, died in infancy or early childhood from septicemia or cardiac decompensation. Ultrastructural abnormalities were observed in mitochondria in cardiac muscle cells, neutrophil bone marrow cells and to a lesser extent (0-9%) in skeletal muscle cells. Membrane-bound vacuoles were seen in neutrophil bone… CONTINUE READING
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