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Society guideline links: Mitochondrial disorders

Society guideline links: Mitochondrial disorders

Introduction — This topic includes links to society and government-sponsored guidelines from selected countries and regions around the world. We will update these links periodically; newer versions of some guidelines may be available on each society's website. Some societies may require users to log in to access their guidelines.

The recommendations in the following guidelines may vary from those that appear in UpToDate topic reviews. Readers who are looking for UpToDate topic reviews should use the UpToDate search box to find the relevant content.

Links to related guidelines are provided separately. (See "Society guideline links: Pediatric anesthesia".)


Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation (2020)

European Neuromuscular Centre (ENMC): International workshop on developing guidelines for management of reproductive options for families with maternally inherited mtDNA disease (2019)

Mitochondrial Medicine Society (MMS): Consensus statement on patient care standards for primary mitochondrial disease (2017)

MMS: Consensus statement on the diagnosis and management of mitochondrial disease (2015)

United States

Mitochondrial medicine therapies – Rationale, evidence, and dosing guidelines (2020)

Recommendations for the management of strokelike episodes in patients with mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (2016)

American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP): Joint consensus recommendation on standards and guidelines for the interpretation of sequence variants (2015)


A guideline for the diagnosis of pediatric mitochondrial disease – The value of muscle and skin biopsies in the genetics era (2017)

Topic 120961 Version 5.0

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