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Mitochondrial diseases: a nosological update
1Neurological Clinic, Section for Neuromuscular Diseases and Neuropathies, University Hospital Spedali Civili of Brescia, Brescia, Italy. filosto@med.unibs.it
Abstract:
Mitochondrial diseases are disorders caused by impairment of the mitochondrial respiratory chain, characterized by clinical-genetic heterogeneity and frequent multisystemic involvement. It is difficult to establish a precise genotype/phenotype correlation and obtain a definitive nosology. Today's genetic classification distinguishes disorders caused by defects in the mitochondrial genome (sporadic or maternally-inherited) from disorders caused by defects in the nuclear genome (autosomally-inherited). We report an updated classification, briefly review the main clinical syndromes and describe the most recent genetic knowledge.
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