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NEUROLOGY 2006;66:253-255
© 2006 American Academy of Neurology
Brief Communications

Coenzyme Q10 deficiency and isolated myopathy

R. Horvath*, P. Schneiderat*, B.G.H. Schoser, K. Gempel, E. Neuen-Jacob, H. Plöger, J. Müller-Höcker, D. E. Pongratz, A. Naini, S. DiMauro and H. Lochmüller, MD

From the Friedrich-Baur-Institute, Department of Neurology (P.S., B.G.H.S., D.E.P., H.L.) and Department of Pathology (J.M.-H.), Ludwig-Maximilians-University of Munich, Munich, Germany; Metabolic Disease Center Munich-Schwabing (R.H., K.G.), Institutes of Clinical Chemistry, Molecular Diagnostics and Mitochondrial Genetics, Academic Hospital Schwabing, Munich, Germany; Institute for Neuropathology (E.M.-J.), Heinrich-Heine-University, Düsseldorf, Germany; Department of Neurology (H.P.), Hospital Herford, Germany; Department of Neurology (A.N., S.D.), Columbia University Medical Center, New York, NY.

Address correspondence and reprint requests to Dr. Hanns Lochmüller, Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University of Munich, Marchioninistr. 17, 81377 München, Germany; e-mail: Hanns.Lochmueller{at}med.uni-muenchen.de.

Three unrelated, sporadic patients with muscle coenzyme Q10 (CoQ10) deficiency presented at 32, 29, and 6 years of age with proximal muscle weakness and elevated serum creatine kinase (CK) and lactate levels, but without myoglobinuria, ataxia, or seizures. Muscle biopsy showed lipid storage myopathy, combined deficiency of respiratory chain complexes I and III, and CoQ10 levels below 50% of normal. Oral high-dose CoQ10 supplementation improved muscle strength dramatically and normalized serum CK.

*These authors contributed equally to this work.

Drs. Schoser, Pongratz, and Lochmüller are members of the German network on muscular dystrophies (MD-NET, 01GM0302) funded by the German Ministry of Education and Research (BMBF, Bonn, Germany); Dr. DiMauro is supported by a grant from the Muscular Dystrophy Association.

Disclosure: The authors report no conflicts of interest.

Received July 26, 2005. Accepted in final form October 10, 2005.


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