2. Academic Validation
  3. Primary Mitochondrial Disorders Overview

Primary Mitochondrial Disorders Overview

Patrick F Chinnery 1,  Margaret P Adam,  David B Everman,  Ghayda M Mirzaa,  Roberta A Pagon,  Stephanie E Wallace,  Lora JH Bean,  Karen W Gripp,  Anne Amemiya
Affiliations

Affiliation

  • 1 Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
PMID: 20301403
Abstract

The purpose of this overview is to increase the awareness of clinicians regarding the clinical characteristics of primary mitochondrial disorders, their diagnosis, and management, and to inform genetic counseling of individuals with a primary mitochondrial disorder and their family members. The following are the goals of this overview.

Goal 1: Describe the clinical characteristics of primary mitochondrial disorders.

Goal 2: Provide evaluation strategies to identify the genetic cause of a primary mitochondrial disorder in a proband.

Goal 3: Identify patient care guidelines for primary mitochondrial disorders.

Goal 4: Inform genetic counseling of family members of an individual with a primary mitochondrial disorder.

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