Резюме

Представлена краткая характеристика клинических, биохимических, морфологических, молекулярно-генетических способов диагностики ми-тохондриальных болезней

There are great number of mitochondrial diseases such as: chronic progressive external ophtalmoplegia (CPEO); Kearns - Sayre syndrome (KSS); Pearson syndrome; infantile myopathy and lactic acidosis (fatal and non¬fatal forms); Leigh syndrome (LS); neurogenic weakness with ataxia and .retinitis pigmentosa (NARP); mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS); myoclonic epilepsy with ragged-red fibres (MERRF); Leber herediraty optic neuropathy (LHON). The causes of mitochondrial diseases are presented with some methords of diagnoscis such as clinical, biochemical, morchological, molecular investigation.

Keywords: mitochondrial diseases, biochemical, clinical spectrum and diagno-sis of mitochondrial disorders