Approximately three years ago, this journal published a review on the clinical and molecular
analysis of mitochondrial encephalomyopathies, with emphasis on defects in mitochondrial …

Abstract Mitochondrial (mt‐) tRNA (MTT) gene mutations are an important cause of human
morbidity and are associated with a wide range of pathology, from isolated organ‐specific …

We introduce an approach to revealing the likelihood of different population histories that
utilizes an explicit model of sequence evolution for the DNA segment under study. Based on …

The rapid development of molecular genetic analysis tools has made it possible to analyze
most biological material found at the scene of a crime. Evidence materials containing DNA …

Human mitochondrial DNA has become a useful tool in forensic investigations. Its
polymorphic nature and maternal inheritance are characteristics that have, combined with its …

Forensic DNA analysis is routinely performed using polymorphic short tandem repeat (STR)
markers. However, for degraded or minute DNA samples, analysis of autosomal single …

Leber's hereditary optic neuropathy (LHON) is characterized by maternally transmitted,
bilateral, central vision loss in young adults. It is caused by mutations in the mitochondrial …

Many different pathogenic mutations in the mitochondrial (mt) transfer RNA (tRNA) genes
have been reported for patients with mitochondrial encephalomyopathy. Although some of …

The great variability of the human mitochondrial DNA (mtDNA) sequence induces many
difficulties in the search for its deleterious mutations. We illustrate these pitfalls by the …

This paper describes the organisation of a database for human mitochondrial control-region
sequences. The data are divided into three ASCII files that contain aligned sequences from …