Screening for mitochondrial cytopathies: the sub-anaerobic threshold exercise test (SATET).

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Screening for mitochondrial cytopathies: the sub-anaerobic threshold exercise test (SATET).

A simple test is described for identifying patients with abnormalities of muscle energy metabolism secondary to mitochondrial dysfunction, based on the venous lactate response to exercise at 90% of predicted work rate at the anaerobic threshold. The test was standardised for age, weight and sex of subjects, and was abnormal in all cases of mitochondrial cytopathy tested, with a false positive r...

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Neurological mitochondrial cytopathies.

The mitochondrial cytopathies are genetically and phenotypically heterogeneous group of disorders caused by structural and functional abnormalities in mitochondria. To the best of our knowledge, there are very few studies published from India till date. Selected and confirmed fourteen cases of neurological mitochondrial cytopathies with different clinical syndromes admitted between 1997 and 200...

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Renal Mitochondrial Cytopathies

Renal diseases in mitochondrial cytopathies are a group of rare diseases that are characterized by frequent multisystemic involvement and extreme variability of phenotype. Most frequently patients present a tubular defect that is consistent with complete De Toni-Debré-Fanconi syndrome in most severe forms. More rarely, patients present with chronic tubulointerstitial nephritis, cystic renal dis...

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Commentary: Human mitochondrial cytopathies.

Mitochondria provide energy (ATP) for all eukaryotic cells except mature erythrocytes and keratinocytes. They are abundant in cells that expend much energy, such as muscle, exocrine pancreas, nervous system, and heart cells, and motile sperm. Many mitochondrial enzymes are encoded by nuclear DNA and imported into the mitochondria. Like bacteria, mitochondria possess their own DNA and ribosomes....

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ژورنال

عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry

سال: 1989

ISSN: 0022-3050

DOI: 10.1136/jnnp.52.9.1090