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Diagnosing Mitochondrial Myopathies or Encephalomyopathies
Reading time: 1 min
The diagnosis is made according to the symptoms and signs presented by the patient, although for a definitive diagnosis a series of complementary tests must be carried out:
Muscle biopsy. In this case, a biopsy should be obtained from the affected organ, brain, muscle, or retina, for example, but when this is not possible, a muscle biopsy is performed. This procedure is used to diagnose diseases that affect the muscle tissue. In this biopsy, a cell type known as ragged-red fibres is usually found, which is very suggestive of the disease, but not conclusive.
Study of the mitochondrial respiratory chain (MRC). By means of a sophisticated laboratory technique, it is possible to demonstrate the malfunction of one or more of the five complexes of this chain (designated using Roman numerals from I to V).
Molecular study. Mutations can be found in mitochondrial DNA and also in nuclear DNA. Depending on the disease, they can be tested in blood, urine, or other tissues.
Published: 24 November 2020
Updated: 24 November 2020
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