In the recent past, the explosion of interest in mitochondrial diseases has made it possible to go beyond clinical or morphologic descriptions and to begin to define different biochemical lesions. However, for many mitochondrial disorders the biochemical alteration is still unknown or the molecular basis of known biochemical defects is poorly understood. In order to define completely the mitochondrial diseases, investigation must include the study of mutant genes, which may belong either to mtDNA or to nuclear DNA. It is only recently that, as a result of a joint effort of clinical and basic scientists, an increasing number of these genes have been isolated and are now available to help characterize human defects.
|Number of pages||36|
|Publication status||Published - 1989|
ASJC Scopus subject areas
- Clinical Neurology