Over 170 known mutations of the mitochondrial genome are responsible for disease. Due to
the unique features of mitochondrial genetics, such patients are clinically diverse and …

Background: Definitive molecular diagnosis of mitochondrial disorders has been greatly
hindered by the tremendous clinical and genetic heterogeneity, the heteroplasmic condition …

Alterations of the mitochondrial DNA (mtDNA) are implicated in various pathological
conditions. In this study, we used denaturing high performance liquid chromatography …

Mitochondrial disorders are a group of clinically and genetically heterogeneous diseases.
Common recurrent mitochondrial DNA (mtDNA) point mutations account for the molecular …

Mitochondrial disorders are clinically and genetically heterogeneous. There are a set of
recurrent point mutations in the mitochondrial DNA (mtDNA) that are responsible for …

In patients with mitochondrial disease a continuously increasing number of mitochondrial
DNA (mtDNA) mutations and polymorphisms have been identified. Most pathogenic mtDNA …

Determination of mitochondrial DNA (mtDNA) heteroplasmy for the diagnosis of patients with
mitochondrial disorders is a difficult task due to the coexistence of wild-type and mutant …

Disease-causing mutations in mitochondrial DNA (mtDNA) are typically heteroplasmic and
therefore interpretation of genetic tests for mitochondrial disorders can be problematic …

Background There are a number of well-known mutations responsible of common
mitochondrial DNA (mtDNA) diseases. In order to overcome technical problems related to …

Mutations in the mitochondrial DNA (mtDNA) are now recognized as major contributors to
human pathologies and possibly to normal aging. A large number of rearrangements and …