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The Diagnostic Dilemma: Genetic Testing vs. Muscle Biopsy in Mitochondrial Myopathies
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The Diagnostic Dilemma: Genetic Testing vs. Muscle Biopsy in Mitochondrial Myopathies

This recorded presentation, delivered by Dr. Michio Hirano at the UCB-sponsored Industry Forum during the MDA 2025 Conference, explores diagnostic approaches for mitochondrial myopathies. It compares the benefits and limitations of genetic testing panels, whole genome/exome sequencing, and muscle biopsy. Through a case review of thymidine kinase 2 deficiency (TK2d), the presentation highlights practical applications and outcomes of each method, and concludes with insights into the future of diagnostics in neuromuscular medicine.

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