MERRF family with 8344 mutation in tRNA (lys). Evidence of a mitochondrial vasculopathy in muscle biopsies
- 31 December 1993
- journal article
- case report
- Published by Elsevier in Neuromuscular Disorders
- Vol. 3 (5-6) , 593-597
- https://doi.org/10.1016/0960-8966(93)90122-z
Abstract
No abstract availableKeywords
This publication has 11 references indexed in Scilit:
- Clinical features associated with the A → G transition at nucleotide 8344 of mtDNA (“MERRF mutation”)Neurology, 1993
- Uniform tissue distribution of tRNA Lys mutation in mitochondrial DNA in MERRF patientsNeurology, 1993
- The mitochondrial DNA transfer RNALysA→G[8344] mutation and the syndrome of myoclonic epilepsy with ragged red fibres [MERRF]Brain, 1993
- Mitochondrial Myopathy Studies on Permeabilized Muscle Fibers1Pediatric Research, 1992
- Strongly succinate dehydrogenase–reactive blood vessels in muscles from patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke‐like episodesAnnals of Neurology, 1991
- Identification of point mutations by mispairing PCR as exemplified in MERRF diseaseBiochemical and Biophysical Research Communications, 1990
- Progressive Myoclonic Ataxia (The Ramsay Hunt Syndrome)Archives of Neurology, 1990
- Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutationCell, 1990
- MYOCLONUS EPILEPSY AND RAGGED-RED FIBRES (MERRF)Brain, 1989
- Vascular involvement in mitochondrial myopathyAnnals of Neurology, 1989