Clinical features of melas and mitochondrial DNA mutations
- 1 January 1995
- journal article
- research article
- Published by Wiley in Muscle & Nerve
- Vol. 18 (S14) , S107-S112
- https://doi.org/10.1002/mus.880181422
Abstract
MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episodes) is a distinct disorder characterized clinically by repeated strokelike attacks mostly beginning in childhood. We have paid special attention to the blood vessel abnormality seen in most biopsied muscle, in terms of the strokelike episodes in MELAS. The 3243 mutation in 80% of the typical MELAS patients has also been found in patients differing from the MELAS phenotype. Because we have examined muscle biopsies in 94 MELAS or 3243-positive patients, it is worthwhile to summarize the clinical and pathological findings and to prove the discrepancy between phenotype and genotype. This may be a starting point for further discussion of the pathomechanism and so toward further understanding of the disease itself. © 1995 John Wiley & Sons, Inc.Keywords
This publication has 30 references indexed in Scilit:
- A New Point Mutation at Nucleotide Pair-3291 of the Mitochondrial Transfer-RNALeu(Uur) Gene in a Patient with Mitochondrial Myopathy, Encephalopathy, Lactic-Acidosis, and Stroke-Like Episodes (MELAS)Biochemical and Biophysical Research Communications, 1994
- MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts.Proceedings of the National Academy of Sciences, 1992
- MELAS: Clinical features, biochemistry, and molecular geneticsAnnals of Neurology, 1992
- Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke‐like episodes (MELAS)Neurology, 1992
- A specific point mutation in the mitochondrial genome of Caucasians with MELASHuman Genetics, 1991
- A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1991
- Mitochondrial encephalopathies: molecular genetic diagnosis from blood samplesThe Lancet, 1991
- Chronic progressive external ophthalmoplegia: A correlative study of mitochondrial DNA deletions and their phenotypic expression in muscle biopsiesJournal of the Neurological Sciences, 1990
- A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathiesNature, 1990
- Mitochondrial myopathiesAnnals of Neurology, 1985