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https://www.readbyqxmd.com/read/27476418/movement-disorders-in-mitochondrial-diseases
#1
C Tranchant, M Anheim
Mitochondrial diseases (MIDs) are a large group of heterogeneous disorders due to mutations in either mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) genes, the latter encoding proteins involved in mitochondrial function. A multisystem clinical picture that involves several organs, including both the peripheral and central nervous systems, is a common presentation of MID. Movement disorders, even isolated ones, are not rare. Cerebellar ataxia is common in myoclonic epilepsy with ragged red fibers (MERFF) due to mutations in the mitochondrial transfer RNA (tRNA) lysine gene, in Kearns-Sayre syndrome due to mtDNA deletions, in sensory ataxic neuropathy with dysarthria and ophthalmoplegia (SANDO) due to nuclear POLG1 gene mutations, and also in ARCA2, Friedreich's ataxia, SPG7, SCA28 and autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) due to mutations in nuclear genes involved in mitochondrial morphology or function...
August 2016: Revue Neurologique
https://www.readbyqxmd.com/read/14967777/revelation-of-a-new-mitochondrial-dna-mutation-g12147a-in-a-melas-merff-phenotype
#2
Mariarosa A B Melone, Alessandra Tessa, Stefania Petrini, Giacomo Lus, Simone Sampaolo, Giuseppe di Fede, Filippo M Santorelli, Roberto Cotrufo
BACKGROUND: A 26-year-old man presented at onset with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) and later with a phenotype for MELAS and myoclonic epilepsy and ragged red fiber disease (MELAS/MERRF). OBJECTIVE: To identify the possible defects in the mitochondrial genome in blood and muscle samples of the patient. DESIGN: Case study of a patient clinically exhibiting strokelike episodes and then epilepsy with myoclonic features, ataxia, and dementia...
February 2004: Archives of Neurology
https://www.readbyqxmd.com/read/12928485/disorders-of-mitochondrial-protein-synthesis
#3
REVIEW
Howard T Jacobs
Mitochondrial tRNA gene mutations, including heteroplasmic deletions that eliminate one or more tRNAs, as well as point mutations that may be either hetero- or homoplasmic, are associated with a wide spectrum of human diseases. These range from rare syndromic disorders to cases of commoner conditions such as sensorineural deafness or cardiomyopathy. The disease spectrum of mutations in a given gene, or even a single mutation, may vary, but some patterns are evident, for example the prominence of cardiomyopathy resulting from tRNAIle defects, or of MERFF-like disease from tRNALys defects...
October 15, 2003: Human Molecular Genetics
https://www.readbyqxmd.com/read/11398016/-a-case-of-mitochondrial-cytopathy-merff-without-ragged-red-fibers-at-the-onset
#4
L Gignoux, T Maisonobe, P Laforet, A Lomb├Ęs, O Lyon-Caen, B Fontaine
We report a case of a mitochondrial cytopathy (MERRF) with a late diagnosis because of the absence of Ragged-Red Fibers (RRF) in the first muscular biopsy performed in childhood. Eight years after the onset of the disease the familial history and the clinical manifestations were very suggestive of a mitochondrial cytopathy and a second biopsy was performed confirming the diagnosis of MERRF. The authors discuss several hypotheses to explain the negativity of the first muscular biopsy. The absence of ragged-red fibers does not exclude the diagnosis of a mitochondrial cytopathy and other investigations are justified such as the biochemical study of the respiratory chain and the molecular analysis of mitochondrial DNA...
April 2001: Revue Neurologique
https://www.readbyqxmd.com/read/10412694/-genetic-counseling-and-prenatal-diagnosis-in-mitochondrial-diseases
#5
REVIEW
T Klopstock, T Gasser
Since mitochondrial diseases lead frequently to severe phenotypes and are often hereditary, there is a need for genetic counselling of the affected families. The specific features of mitochondrial genetics, however, hamper straightforward definition of recurrence risks as in Mendelian diseases. Empirical risks were recently provided for MELAS and MERRF syndromes and for Leber hereditary optic neuropathy. In MELAS and MERFF, higher levels of mutant mtDNA in the mothers' blood were associated with an increased frequency of affected offspring...
June 1999: Der Nervenarzt
https://www.readbyqxmd.com/read/10150825/peripheral-ocular-motor-disorders
#6
REVIEW
R Ebner
In the reviewed period, articles on peripheral eye movement disorders covered interesting aspects. Localizing value of associated signs, repetitive presentations of palsies, and classical quotations are stressed for the oculomotor nerve. The superior oblique is correlated to central nervous system disorders when overacting in pediatric patients or when ocular torsion is matched to the perceived vertical tilt. The family "pseudo" brought two of its members: "pseudo" myasthenia and "pseudo" myotonia. Mitochondrial citopathies with ocular manifestations can overlap among the different clinical types, eg, Kearns-Sayre, MELAS (mitochondrial encephalopathy-lactic acidosis and strokelike episodes), MERFF (myoclonic epilepsy and ragged red fibers)...
December 1994: Current Opinion in Ophthalmology
https://www.readbyqxmd.com/read/8350109/mitochondrial-encephalomyopathy-variable-clinical-expression-within-a-single-kindred
#7
D Crimmins, J G Morris, G L Walker, C M Sue, E Byrne, S Stevens, B Jean-Francis, C Yiannikas, R Pamphlett
The clinical manifestations of mitochondrial encephalomyopathy are described in four generations of a single kindred. The age of onset of major neurological disturbance varied from 3-70 years. In some patients, deafness was the only manifestation; in others, recurrent bouts of status epilepticus associated with focal neurological deficits and headache, caused severe disability or death. Examples of all three adult forms of mitochondrial encephalomyopathy: MELAS, MERFF and Kearns Sayre syndrome, were represented within the kindred...
August 1993: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/8293722/progress-in-mapping-human-epilepsy-genes
#8
REVIEW
A V Delgado-Escueta, J M Serratosa, A Liu, K Weissbecker, M T Medina, M Gee, L J Treiman, R S Sparkes
The chromosomal loci for seven epilepsy genes have been identified in chromosomes 1q, 6p, 8q, 16p, 20q, 21q, and 22q. In 1987, the first epilepsy locus was mapped in a common benign idiopathic generalized epilepsy syndrome, juvenile myoclonic epilepsy (JME). Properdin factor or Bf, human leukocyte antigen (HLA), and DNA markers in the HLA-DQ region were genetically linked to JME and the locus, named EJM1, was assigned to the short arm of chromosome 6. Our latest studies, as well as those by Whitehouse et al...
1994: Epilepsia
https://www.readbyqxmd.com/read/7566465/oxidative-metabolism-in-rett-syndrome-2-biochemical-and-molecular-studies
#9
COMPARATIVE STUDY
R H Haas, F Nasirian, X Hua, K Nakano, M Hennessy
In an attempt to identify a possible defect of mitochondrial metabolism in Rett syndrome we studied 9 girls with typical Rett syndrome using a clinical protocol designed to identify disorders of oxidative metabolism. One girl, (RO) had marked lactic acidemia. Biochemical studies on samples from these patients included leukocyte pyruvate carboxylase assay, serum biotinidase and skin fibroblast pyruvate production, pyruvate dehydrogenase, citrate synthetase and 2-oxoglutarate dehydrogenase assay. Muscle electron transport activities were studied on samples from 4 typical Rett patients including RO...
April 1995: Neuropediatrics
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