Literature DB >> 8151079

Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS): current concepts.

M Hirano1, S G Pavlakis.   

Abstract

Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) syndrome is one of many mitochondrially inherited multisystem diseases. The features of 110 reported mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes patients are reviewed to define the clinical spectrum of this disease. The clinical disorder, in addition to emerging concepts of genetic etiology, is promoting our understanding of mitochondrial functions. New knowledge may lead to more rational therapies. Finally, the recent revolution in the study of mitochondrial diseases may further our understanding of other degenerative disorders and even aging.

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Year:  1994        PMID: 8151079     DOI: 10.1177/088307389400900102

Source DB:  PubMed          Journal:  J Child Neurol        ISSN: 0883-0738            Impact factor:   1.987


  64 in total

1.  [Characteristics of anesthesia in patients with MELAS syndrome: Case report of anesthesia in video-assisted thoracoscopy].

Authors:  A Haas; F Wappler
Journal:  Anaesthesist       Date:  2015-08-28       Impact factor: 1.041

2.  Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A).

Authors:  F M Santorelli; S C Mak; M El-Schahawi; C Casali; S Shanske; T Z Baram; R E Madrid; S DiMauro
Journal:  Am J Hum Genet       Date:  1996-05       Impact factor: 11.025

3.  A novel tRNA(Val) mitochondrial DNA mutation causing MELAS.

Authors:  Kurenai Tanji; Petra Kaufmann; Ali B Naini; Jiesheng Lu; Timothy C Parsons; Dong Wang; Joshua Z Willey; Sara Shanske; Michio Hirano; Eduardo Bonilla; Alexander Khandji; Salvatore Dimauro; Lewis P Rowland
Journal:  J Neurol Sci       Date:  2008-03-07       Impact factor: 3.181

4.  Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2.

Authors:  Anna Rajab; Kimberly A Aldinger; Hisham Ali El-Shirbini; William B Dobyns; M Elizabeth Ross
Journal:  Am J Med Genet A       Date:  2009-02       Impact factor: 2.802

Review 5.  The neuro-ophthalmology of mitochondrial disease.

Authors:  J Alexander Fraser; Valérie Biousse; Nancy J Newman
Journal:  Surv Ophthalmol       Date:  2010-05-14       Impact factor: 6.048

6.  The mitochondrial A3243G mutation presenting as severe cardiomyopathy.

Authors:  L Vilarinho; F M Santorelli; M J Rosas; C Tavares; M Melo-Pires; S DiMauro
Journal:  J Med Genet       Date:  1997-07       Impact factor: 6.318

7.  Mitochondrial Respiratory Disorders: A Perspective on their Metabolite Biomarkers and Implications for Clinical Diagnosis and Therapeutic Intervention.

Authors:  Martine Uittenbogaard; Anne Chiaramello
Journal:  Biomark J       Date:  2015-10-12

8.  The nuclear background influences the penetrance of the near-homoplasmic m.1630 A > G MELAS variant in a symptomatic proband and asymptomatic mother.

Authors:  Martine Uittenbogaard; Hao Wang; Victor Wei Zhang; Lee-Jun Wong; Christine A Brantner; Andrea Gropman; Anne Chiaramello
Journal:  Mol Genet Metab       Date:  2019-01-25       Impact factor: 4.797

9.  A Case of Myopathy, Encephalopathy, Lactic Acidosis and Stroke-Like Episodes (MELAS) Syndrome with Intracardiac Thrombus [corrected].

Authors:  Jung-Chul Joo; Myung Do Seol; Jin Won Yoon; Young Soo Lee; Dong-Keun Kim; Yong Hoon Choi; Hyo Seong Ahn; Wook Hyun Cho
Journal:  Korean Circ J       Date:  2013-03-31       Impact factor: 3.243

10.  A patient with typical clinical features of mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) but without an obvious genetic cause: a case report.

Authors:  Khaled K Abu-Amero; Hesham Al-Dhalaan; Saeed Bohlega; Ali Hellani; Robert W Taylor
Journal:  J Med Case Rep       Date:  2009-10-15
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