Mitochondrial diseases are often hard to diagnose. From the time
they were first researched without animal models, patients of
mitochondrial diseases were of equal interest to both clinical and
basic scientists. With the new research done, this book includes
updates on the normal structure, function, and molecular biology of
the mitochondrial respiratory chain, information on traditional
diagnostical methodologies, and an overview of the diagnostic
promise of new technologies. The hypermetabolism of Luft disease,
although only seen twice, is also studied. There are critical
reviews of symptoms and signs associated with syndromes, as well as
updates on the genetic defects of either the mitochondrial or the
nuclear genome responsible for many disorders.
General
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