The myoclonic epilepsy and ragged-red fibers (MERRF) syndrome is a maternally inherited mitochondrial encephalomyopathy. It is characterized by myoclonus or myoclonic epilepsy, ataxia, myopathy with ragged red fibers (RRF), epilepsy, muscle weakness and wasting, deafness and dementiaPatients with ...
Ragged-red fiber. OpenSubtitles2018.v3 Test his DNA for ragged-red fiber. OpenSubtitles2018.v3 This gives these fibers a darker red color, causing the overall appearance of the biopsy to be described as "ragged red fibers. WikiMatrix Diseases such as Kearns-Sayre syndrome, Pearson syndrome...
Classification Myoclonus epilepsy with ragged-red fibers (MERRF) is a multisytemic mitochondrial syndrome (Fukuhara 1991 ). Demographic Data Onset: MERRF typically begins in childhood, but adult-onset has been reported (Hirano 2008 ). G... M Hirano - Springer London 被引量: 4发表: 2010年 Myo...
Nuclear DNA-encoded tRNAs targeted into mitochondria can rescue a mitochondrial DNA mutation associated with the MERRF syndrome in cultured human cells (Lys) mutation, which can cause the MERRF (myoclonic epilepsy with ragged-red fibers) syndrome, could be complemented by targeting tRNAs into mitochon...
Cytochrome c oxidase deficiency in Leigh syndrome. Ann Neurol 1987;22 (4) 498- 506PubMedGoogle ScholarCrossref 5. Dobkin BHVerity MA Familial progressive bulbar and spinal muscular atrophy: juvenile onset and late mortality with ragged-red fibers. Neurology 1976;26 (8) 754- 763PubMedGoogle...
Ragged red fibers in normal aging and inflammatory myopathy. MYOCLONUS EPILEPSY AND RAGGED-RED FIBRES (MERRF) Oculocraniosomatic neuromuscular disease with "ragged-red"fibers. Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation. ...
Myoclonic epilepsy with ragged-red fibers (MERRF) syndrome: report of a Chinese family with mitochondrial DNA point mutation in tRNALys gene. Muscle Nerve 1994; 17:52 - 7.Fang W, Huang CC, Chu NS, Lee CC, Chen, RS,Pang CY, Shih KD, Wei YH: Myoclonic epilepsy with ragged-red ...
(MELAS), two with myoclonus, epilepsy, and ragged red fibers (MERRF), two with Kearns-Sayre syndrome, seven with Leigh syndrome, one with progressive ... AJ Barkovich,WV Good,TK Koch,... - 《Ajnr Am J Neuroradiol》 被引量: 517发表: 1993年 Oculocraniosomatic Neuromuscular Disease With ...
Classification Myoclonus epilepsy with ragged-red fibers (MERRF) is a multisytemic mitochondrial syndrome (Fukuhara 1991 ). Demographic Data Onset: MERRF typically begins in childhood, but adult-onset has been reported (Hirano 2008 ). Gender: Men and women are affected with MERRF at equal ...
Santorelli FM, Casali C.Genetic heterogeneity of myoclonus epilepsy with ragged-red fibers syndrome.Muscle Nerve,1998,21:681-682.Santorelli FM, Casali C: Genetic heterogeneity of myoclonus epilepsy with ragged-red fibers syndrome. Muscle Nerve 1998;21:681-682....