نتایج جستجو برای: mitochondrial myopathies

تعداد نتایج: 134607  

Journal: :Neurologie pro praxi 2016

Journal: :Rinsho Shinkeigaku 2012

Journal: :Journal of Clinical Medicine 2018

Journal: :Gut 1988
R Cervera J Bruix A Bayes R Blesa I Illa J Coll A M Garcia-Puges

A 38 year old woman having chronic intestinal pseudoobstruction associated with mitochondrial myopathy is reported. The clinical and radiographic features suggested the diagnosis of chronic intestinal pseudoobstruction. Muscular atrophy and ophthalmoplegia led to muscle biopsy, which disclosed accumulation of normal and abnormal mitochondria ('ragged red fibres'), characteristic of mitochondria...

Journal: :Gut 1993
R Lowsky G Davidson S Wolman K N Jeejeebhoy R A Hegele

A 27 year old man with intestinal pseudo-obstruction who developed parenteral nutrition induced hyperlipidaemia and who also had ophthalmoplegia and an undifferentiated myopathy is described. Histological examination of biopsy specimens and molecular analysis show that this patient had both familial visceral myopathy and a mitochondrial myopathy, suggesting that a mitochondrial DNA mutation is ...

Journal: :Hong Kong medical journal = Xianggang yi xue za zhi 2002
K C Chang Y F Mak W C Yu K K Lau W W Yan T C Chow

Mitochondrial myopathy is an important but uncommon cause of respiratory insufficiency in adults. We report the first case of respiratory insufficiency associated with adult-onset mitochondrial myopathy seen in a Chinese adult in Hong Kong. The patient presented with peripheral oedema and shortness of breath over 2 to 3 days. There was a history of gradual progressive limb weakness over approxi...

2014
Stefen Brady Waney Squier Caroline Sewry Michael Hanna David Hilton-Jones Janice L Holton

OBJECTIVE The current pathological diagnostic criteria for sporadic inclusion body myositis (IBM) lack sensitivity. Using immunohistochemical techniques abnormal protein aggregates have been identified in IBM, including some associated with neurodegenerative disorders. Our objective was to investigate the diagnostic utility of a number of markers of protein aggregates together with mitochondria...

Journal: :CONTINUUM: Lifelong Learning in Neurology 2016

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