The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort Study.

Neither biochemical nor histological data seemed to predict molecularly confirmed MD, although the presence of both COX-negative and SDH-positive ragged red fibers showed a trend in this direction ( p = 0.0038).

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Conversely, the second most important paraclinical tool in predicting a definitive diagnosis of MD in our cohort was the muscle biopsy histology, even though the data did not reach statistical significance.

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The presence of both COX-negative and SDH-positive ragged red/blue fibers ( p = 0.037) showed a trend towards significance in the patients harboring mtDNA mutations.

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