Results 181 to 190 of about 419,034 (232)
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Journal of the Neurological Sciences, 1981
Six clinically affected and 18 asymptomatic members of a six-generation family were investigated clinically, by estimation of serum CK levels, and in some cases by quantitative electromyographic techniques and muscle biopsy. It was concluded that the myopathy was probably inherited as an autosomal dominant trait with variable expression and incomplete ...
F, Mechler +3 more
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Six clinically affected and 18 asymptomatic members of a six-generation family were investigated clinically, by estimation of serum CK levels, and in some cases by quantitative electromyographic techniques and muscle biopsy. It was concluded that the myopathy was probably inherited as an autosomal dominant trait with variable expression and incomplete ...
F, Mechler +3 more
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Acta Physiologica Scandinavica, 2001
The first description of a patient with mitochondrial myopathy and deficient respiratory chain function was reported by Luft and coworkers almost 40 years ago. Subsequent studies in the 1970s and 1980s relied on a combination of morphological and biochemical methods to identify patients with mitochondrial disorders.
N G, Larsson, A, Oldfors
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The first description of a patient with mitochondrial myopathy and deficient respiratory chain function was reported by Luft and coworkers almost 40 years ago. Subsequent studies in the 1970s and 1980s relied on a combination of morphological and biochemical methods to identify patients with mitochondrial disorders.
N G, Larsson, A, Oldfors
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Current Opinion in Rheumatology, 1994
Major new advances in the genetic and biochemical characterization of mitochondrial myopathies are discussed, within a general presentation of this important new area of human pathology. Mitochondrial disorders can be due to mutations in either nuclear or mitochondrial genes involved in the synthesis of individual respiratory chain subunits or in their
Zeviani M., Amati P., SAVOIA, ANNA
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Major new advances in the genetic and biochemical characterization of mitochondrial myopathies are discussed, within a general presentation of this important new area of human pathology. Mitochondrial disorders can be due to mutations in either nuclear or mitochondrial genes involved in the synthesis of individual respiratory chain subunits or in their
Zeviani M., Amati P., SAVOIA, ANNA
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Duplications of Mitochondrial DNA in Mitochondrial Myopathy.
Lancet, The, 1989Restriction enzyme analysis was done on total cellular DNA extracted from whole blood in two patients with mitochondrial myopathy and multisystem involvement and their families. The two patients had an abnormal mitochondrial genome with a large (about 8 kb) duplication present in several tissues.
J Poulton, R Mark Gardiner, R M Gardiner
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Myopathy with mitochondrial inclusions
Virchows Archiv B Cell Pathology, 1971In 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, 1999Defects 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, 2014Metabolic 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, 2013Mitochondria 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, 2004The 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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Neuropathy and mitochondrial myopathy
Annals of Neurology, 1980AbstractIt 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 +3 more
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