Results 161 to 170 of about 26,737 (207)

Mitochondrial myopathies

Journal of Inherited Metabolic Disease, 1987
AbstractThe mitochondrial myopathies or encephalomyopathies with known biochemical defects can be divided into 5 groups: (1) defects of mitochondrial transport, such as CPT deficiency or carnitine deficiencies; (2) defects of substrate utilization, such as PDHC deficiency or defects of β‐oxidation; (3) defects of the Krebs cycle, such as fumarase ...
DiMauro S., Bonilla E., Zeviani M., Servidei S., DeVivo D. C., Schon E. A.   +5 more
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Myopathy with mitochondrial inclusions

Virchows Archiv B Cell Pathology, 1971
In a case of atypic myopathy which was poorly defineable by clinical examination and light microscopy, crystalline mitochondrial inclusion bodies were revealed electron-microscopically. In accordance with literary data and their own observation the authors consider it doubtful that these findings should be related to the pathological process of the ...
B, Benke, M, Szendröi
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Mitochondrial myopathies and encephalomyopathies

European Journal of Clinical Investigation, 1999
Defects of mitochondrial metabolism result in a wide variety of human disorders, which can present at any time from infancy to late adulthood and involve virtually any tissue either alone or in combination. Abnormalities of the electron transport and oxidative phosphorylation (OXPHOS) system are probably the most common cause of mitochondrial diseases.
A H, Schapira, H R, Cock
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Metabolic and Mitochondrial Myopathies

Neurologic Clinics, 2014
Metabolic and mitochondrial myopathies encompass a heterogeneous group of disorders that result in impaired energy production in skeletal muscle. Symptoms of premature muscle fatigue, sometimes leading to myalgia, rhabdomyolysis, and myoglobinuria, typically occur with exercise that would normally depend on the defective metabolic pathway.
Lydia J, Sharp, Ronald G, Haller
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Diagnosis of mitochondrial myopathies

Molecular Genetics and Metabolism, 2013
Mitochondria are ubiquitous organelles and play crucial roles in vital functions, most importantly, the oxidative phosphorylation and energy metabolism. Therefore, mitochondrial dysfunction can affect multiple tissues, with muscle and nerve preferentially affected.
Margherita, Milone, Lee-Jun, Wong
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Mitochondrial myopathies and anaesthesia

European Journal of Anaesthesiology, 2004
The mitochondrial myopathies consist of a heterogeneous group of disorders caused by structural and functional abnormalities in mitochondria leading to involvement of the nervous system and muscles as well as other organ systems. The peculiar genetic characteristics of mitochondrial DNA impart distinctive properties to these disorders.
E A, Shipton, D O, Prosser
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Familial Mitochondrial Myopathies

1981
Mitochondrial myoencephalopathies might be defined as diseases with mitochondrial alterations in skeletal muscle and brain, often combined with mitochondrial alterations in other organs. Examples are Reye’s syndrome (8, 9) kinky hair syndrome (3, 4) and Zellweger’s syndrome (5, 6).
G F, Walter, S, Tassin, J M, Brucher
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Neuropathy and mitochondrial myopathy

Annals of Neurology, 1980
AbstractIt has been stated that peripheral neuropathy can be a feature of so‐called ophthalmoplegia‐ plus syndrome, but to date one case of hypertrophic neuropathy has been reported. This study is concerned with the clinical, electrophysiology, and pathological observations made in a 37‐year‐old man with progressive extyernal ophthalmcmetric studi9ees ...
J M, Peyronnard, L, Charron, A, Bellavance, L, Marchand   +3 more
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Mitochondrial DNA polymorphism in mitochondrial myopathy

Human Genetics, 1988
In order to test the hypothesis that mitochondrial myopathy may be caused by mutation of the mitochondrial (mt) genome, restriction fragment length polymorphism in leucocyte mt DNA has been studied in 38 patients with mitochondrial myopathy, 44 of their unaffected matrilineal relatives, and 35 normal control subjects.
I J, Holt, A E, Harding, J A, Morgan-Hughes   +2 more
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Mitochondrial and Metabolic Myopathies

Continuum, 2019
This article provides an overview of mitochondrial and metabolic biology, the genetic mechanisms causing mitochondrial diseases, the clinical features of mitochondrial diseases, lipid myopathies, and glycogen storage diseases, all with a focus on those syndromes and diseases associated with myopathy.
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