Practical Aspects of a Mitochondrial Disease Diagnosis
Dr. Richard Haas from University of California San Diego discusses:
Practical Approaches to a Mito Diagnosis
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- Background and function of mitochondria, mitochondrial disease, and problems caused by mitochondrial dysfunction
- Mitochondrial genetics, in brief
- Classification of Mito Diseases
- Difficulty in diagnosing mtDNA disease
- Inherent problems in diagnosis/diagnostic approaches of both OXPHOS and mtDNA disease
- Testing, in brief, including advantages and limitations of new nDNA gene sequencing
- Clues to the diagnosis of mitochondrial disease for clinicians (and families)
- How does one eventually arrive at a dx of Mito disease?
- Why are more invasive tests (i.e. muscle biopsy) sometimes necessary?
- How is the field of mitochondrial medicine changing? Are there new types of mitochondrial disease? What may the future look like for this field and for patients/families?
Dr. Richard Boles