نتایج جستجو برای: melas

تعداد نتایج: 971  

Journal: :Journal of medical genetics 2010
M Nakamura I Yabe A Sudo K Hosoki H Yaguchi S Saitoh H Sasaki

BACKGROUND Myoclonic epilepsy with ragged-red fibres (MERRF) and mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) are established phenotypes of mitochondrial encephalomyopathy. The m.8356T>C transition in the mitochondrial tRNA(Lys) gene is a pathogenic mutations of MERRF. The m.3243A>G transition in the mitochondrial tRNA(Leu) gene is detected in most MELAS patien...

Journal: :Journal of medical genetics 2004
D M Kirby R McFarland A Ohtake C Dunning M T Ryan C Wilson D Ketteridge D M Turnbull D R Thorburn R W Taylor

C omplex I is the largest of the mitochondrial respiratory chain enzyme complexes, consisting of at least 46 subunits, seven of which are encoded by mtDNA. Deficiency of complex I is the most common respiratory chain defect, and can be caused by mutations in both nuclear and mtDNA encoded genes. It has a wide range of clinical presentations, from lethal infantile mitochondrial disease to isolat...

Journal: :Journal of neurology, neurosurgery, and psychiatry 1996
G M Fabrizi E Cardaioli G S Grieco T Cavallaro A Malandrini L Manneschi M T Dotti A Federico G Guazzi

OBJECTIVE To verify the phenotype to genotype correlations of mitochondrial DNA (mtDNA) related disorders in an atypical maternally inherited encephalomyopathy. METHODS Neuroradiological, morphological, biochemical, and molecular genetic analyses were performed on the affected members of a pedigree harbouring the heteroplasmic A to G transition at nucleotide 3243 of the mitochondrial tRNALeu(...

2017
Beatrix Béres Dóra Kánainé Sipos Tamás Müller Ádám Staszny Milán Farkas Katalin Bakos László Orbán Béla Urbányi Balázs Kovács

Since three bullhead catfish species were introduced to Europe in the late 19th century, they have spread to most European countries. In Hungary, the brown bullhead (Ameiurus nebulosus) was more widespread in the 1970s-1980s, but the black bullhead (Ameiurus melas) has gradually supplanted since their second introduction in 1980. The introgressive hybridization of the two species has been presu...

Journal: :Molecular Genetics and Metabolism Reports 2017

Journal: :The Medical journal of Australia 2011
Luke J Conway Thomas E Robertson James J McGill Josh P Hanson

TO THE EDITOR: MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) syndrome has not been reported previously in the Aboriginal Australian population. Here, we describe a patient with MELAS syndrome in this population. A 29-year-old Aboriginal Australian woman presented with a 3-day history of seizures and confusion and a background of cognitive impairment, s...

Journal: :Bulletin of entomological research 2003
C Bøgh C Bøgh S E Clarke M Jawara C J Thomas S W Lindsay

A study was undertaken to identify the major larval habitats of the Anopheles gambiae (Giles) complex in rural Gambia. Mosquito larvae and pupae were sampled along transects and in specific habitats in the central region of the country during the rainy seasons of 1996 and 1997. The sampling showed that the major breeding sites were located on the flooded alluvial soils bordering the river. The ...

2016
Josef Finsterer Sinda Zarrouk-Mahjoub

With interest we read the article by Thomas et al. about a 44 year old female with MELAS syndrome due to the m.3243ANG mutation, which manifested cardiologically as hypertrophic cardiomyopathy and episodes of supraventricular tachycardia requiring atenolol [1]. We have the following comments and concerns. MELAS may be associated with sudden cardiac death [2]. Did the authors consider implantati...

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