Practical Aspects of a Mitochondrial Disease Diagnosis

Dr. Richard Haas from University of California San Diego discusses:

Practical Approaches to a Mito Diagnosis

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?