Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency

Arch Neurol. 2005 Feb;62(2):317-20. doi: 10.1001/archneur.62.2.317.


Background: Primary coenzyme Q(10) (CoQ(10)) deficiency is rare. The encephalomyopathic form, described in few families, is characterized by exercise intolerance, recurrent myoglobinuria, developmental delay, ataxia, and seizures.

Objective: To report a rare manifestation of CoQ(10) deficiency with isolated mitochondrial myopathy without central nervous system involvement.

Methods: The patient was evaluated for progressive muscle weakness. Comprehensive clinical evaluation and muscle biopsy were performed for histopathologic analysis and mitochondrial DNA and respiratory chain enzyme studies. The patient began taking 150 mg/d of a CoQ(10) supplement.

Results: The elevated creatine kinase and lactate levels with abnormal urine organic acid and acylcarnitine profiles in this patient suggested a mitochondrial disorder. Skeletal muscle histochemical evaluation revealed ragged red fibers, and respiratory chain enzyme analyses showed partial reductions in complex I, I + III, and II + III activities with greater than 200% of normal citrate synthase activity. The CoQ(10) concentration in skeletal muscle was 46% of the normal reference mean. The in vitro addition of 50 micromol/L of coenzyme Q(1) to the succinate cytochrome-c reductase assay of the patient's skeletal muscle whole homogenate increased the succinate cytochrome-c reductase activity 8-fold compared with 2.8-fold in the normal control homogenates. Follow-up of the patient in 6 months demonstrated significant clinical improvement with normalization of creatine kinase and lactate levels.

Conclusions: The absence of central nervous system involvement and recurrent myoglobinuria expands the clinical phenotype of this treatable mitochondrial disorder. The complete recovery of myopathy with exogenous CoQ(10) supplementation observed in this patient highlights the importance of early identification and treatment of this genetic disorder.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Biopsy / methods
  • Child
  • Coenzymes
  • Creatine Kinase / urine
  • DNA, Mitochondrial / metabolism
  • Electron Transport / physiology
  • Humans
  • Lactic Acid / urine
  • Male
  • Microscopy, Electron, Transmission / methods
  • Mitochondria, Muscle / enzymology
  • Mitochondria, Muscle / pathology
  • Mitochondria, Muscle / ultrastructure
  • Mitochondrial Myopathies / diet therapy
  • Mitochondrial Myopathies / enzymology*
  • Mitochondrial Myopathies / genetics
  • Mitochondrial Myopathies / physiopathology
  • Muscle Weakness / drug therapy
  • Muscle Weakness / enzymology*
  • Muscle Weakness / genetics
  • Muscle Weakness / physiopathology
  • Muscle, Skeletal / enzymology
  • Muscle, Skeletal / pathology
  • Muscle, Skeletal / physiopathology
  • Muscle, Skeletal / ultrastructure
  • Staining and Labeling / methods
  • Ubiquinone / administration & dosage
  • Ubiquinone / analogs & derivatives*
  • Ubiquinone / deficiency*


  • Coenzymes
  • DNA, Mitochondrial
  • Ubiquinone
  • Lactic Acid
  • Creatine Kinase
  • coenzyme Q10