Literature DB >> 6318158

Mitochondrial encephalomyopathy with decreased succinate-cytochrome c reductase activity.

J E Riggs, S S Schochet, A V Fakadej, A Papadimitriou, S DiMauro, T W Crosby, L Gutmann, R T Moxley.   

Abstract

We report two siblings with a mitochondrial encephalomyopathy. The syndrome was characterized by ataxia, intellectual impairment, myoclonic jerks, rare seizures, and small stature. Muscle biopsy specimens showed abnormal accumulations of mitochondria and lipid droplets. Biochemical studies on muscle demonstrated decreased succinate-cytochrome c reductase activity in the mitochondrial respiratory chain.

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Year:  1984        PMID： 6318158     DOI： 10.1212/wnl.34.1.48

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  19 in total

Review 1.  Progressive myoclonic epilepsies: review of clinical, molecular and therapeutic aspects.

Authors:  Luis Felipe Mendonça de Siqueira
Journal:  J Neurol       Date:  2010-07-01       Impact factor: 4.849

Review 2.  Mitochondrial myopathies.

Authors:  S DiMauro; E Bonilla; M Zeviani; S Servidei; D C DeVivo; E A Schon
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

3.  Magnetic resonance imaging in MELAS syndrome.

Authors:  L Rosen; S Phillips; D Enzmann
Journal:  Neuroradiology       Date:  1990       Impact factor: 2.804

Review 4.  Mitochondrial myopathy: a genetic study of 71 cases.

Authors:  A E Harding; R K Petty; J A Morgan-Hughes
Journal:  J Med Genet       Date:  1988-08       Impact factor: 6.318

Review 5.  Cerebral imaging in paediatric mitochondrial disorders.

Authors:  Josef Finsterer; Sinda Zarrouk-Mahjoub
Journal:  Neuroradiol J       Date:  2018-07-06

6.  Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes with acanthocytosis: a clinicopathological study of a unique case.

Authors:  M Mukoyama; H Kazui; N Sunohara; M Yoshida; I Nonaka; E Satoyoshi
Journal:  J Neurol       Date:  1986-08       Impact factor: 4.849

7.  Dyssynergia cerebellaris myoclonica (Ramsay Hunt syndrome): a condition unrelated to mitochondrial encephalomyopathies.

Authors:  C A Tassinari; R Michelucci; P Genton; J F Pellissier; J Roger
Journal:  J Neurol Neurosurg Psychiatry       Date:  1989-02       Impact factor: 10.154

8.  Early axonal lesion and preserved microvasculature in epilepsy-induced hypermetabolic necrosis of the substantia nigra.

Authors:  R N Auer; M Ingvar; G Nevander; Y Olsson; B K Siesjö
Journal:  Acta Neuropathol       Date:  1986       Impact factor: 17.088

9.  Pyruvate dehydrogenase activity is not deficient in the brain of three autopsied cases with Leigh disease (subacute necrotizing encephalomyelopathy, SNE).

Authors:  B Kustermann-Kuhn; K Harzer; R Schröder; W Permanetter; J Peiffer
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

Review 10.  Muscle mitochondrial DNA in encephalomyopathy and ragged red fibres: a Southern blot analysis and literature review.

Authors:  C Geny; V Cormier; C Meyrignac; P Cesaro; J D Degos; R Gherardi; A Rötig
Journal:  J Neurol       Date:  1991-06       Impact factor: 4.849
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