[Mitochondrial defects].

R C Sengers; A M Stadhouders; J M Trijbels

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PubMed · 2668741

[Mitochondrial defects].

R C Sengers·A M Stadhouders·J M Trijbels

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Abstract

Mitochondrial myopathies are characterized by structural and functional abnormalities of the mitochondria. The diseases are best classified according to the underlying biochemical defect. In this article the variability of clinical expression and mitochondrial abnormalities is illustrated. An exact diagnosis is a prerequisite for a rational therapy and genetic counseling. In exceptional cases antenatal diagnosis should be possible.

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Adenosine Triphosphate Child Child, Preschool Energy Metabolism Humans Infant Metabolism, Inborn Errors Microscopy, Electron Mitochondria, Muscle English Abstract Journal Article Review

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R C Sengers, A M Stadhouders, J M Trijbels. 1989. [Mitochondrial defects].. https://pubmed.ncbi.nlm.nih.gov/2668741/

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