Practical Aspects of a Mitochondrial Disease Diagnosis

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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?
Date: 03/02/2012
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