Metabolic and mitochondrial myopathies

Lydia J. Sharp, Ronald G. Haller

Research output: Contribution to journalReview articlepeer-review

40 Scopus citations


Metabolic and mitochondrial myopathies encompass a heterogeneous group of disorders that result in impaired energy production in skeletal muscle. Symptoms of premature muscle fatigue, sometimes leading to myalgia, rhabdomyolysis, and myoglobinuria, typically occur with exercise that would normally depend on the defective metabolic pathway. But in another group of these disorders, the dominant muscle symptom is weakness. This article reviews the clinical features, diagnosis, and management of these diseases with emphasis on the recent literature.

Original languageEnglish (US)
Pages (from-to)777-799
Number of pages23
JournalNeurologic Clinics
Issue number3
StatePublished - Aug 2014


  • Exercise intolerance
  • Fatty acid oxidation defects
  • Glycogen storage diseases
  • Metabolic myopathies
  • Mitochondrial myopathies

ASJC Scopus subject areas

  • Clinical Neurology


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