Presentation
Numerous mutations in mtDNA have been described in the past 5 years, and, it is, therefore, important for the clinician to keep in mind both some characteristic clinical presentations and, more importantly, some basic principles of "mitochondrial genetics [pubmed.ncbi.nlm.nih.gov]
Atypical clinical presentations associated with the MELAS mutation at position 2343 of human mitochondrial DNA. Neuromusc. Disord. 3: 43–50. CrossRef CAS PubMed Google Scholar Hirano, M. & S. Dimauro. 2001. [link.springer.com]
The mutation was present in 26 out of 31 independent MELAS patients and 1 out of 29 CPEO patients, but absent in the 5 MERRF and 50 controls tested. [nature.com]
Neurologic
- Stroke
Diagnosis of adult-onset MELAS syndrome in a 63-year-old patient with suspected recurrent strokes - a case report. Sinnecker T, Andelova M, Mayr M, Rüegg S, Sinnreich M, Hench J, Frank S, Schaller A, Stippich C, Wuerfel J, Bonati LH. [pubmed.ncbi.nlm.nih.gov]
653 (1990)Cite this article 2252 Accesses 1678 Citations 6 Altmetric Metrics details Abstract MITOCHONDRIAL encephalomyopathies are usually divided into three distinct clinical subgroups: (1) mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like [nature.com]
Strongly succinate dehydrogenasereactive blood vessels in muscles from patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. Ann. Neurol. 29: 601–605. CrossRef CAS PubMed Google Scholar DiMauro, S., S. [link.springer.com]
Treatment
Epidemiology and treatment of mitochondrial disorders. Am. J. Med. Genet. 106: 94–101. CrossRef CAS PubMed Google Scholar Schon, E.A., M. Hirano & S. DiMauro. 2002. Molecular genetic basis of the mitochondrial encephalomyopathies. [link.springer.com]
Epidemiology
The epidemiology of pathogenic mitochondrial DNA mutations. Ann. Neurol. 48: 188–193. CrossRef CAS PubMed Google Scholar Chinnery, P.F. & D.M. Turnbull. 2001. Epidemiology and treatment of mitochondrial disorders. Am. J. Med. Genet. 106: 94–101. [link.springer.com]