Publication:
Coenzyme Q10 deficiency and isolated myopathy (2006)
Author(s): Horvath R; Schneiderat P; Schoser BG; Gempel K; Neuen-Jacob E; Ploger H; Muller-Hocker J; Pongratz DE; Naini A; Di Mauro S; Lochmuller H
Abstract: 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.
- Date: 24-01-2006
- Journal: Neurology
- Volume: 66
- Issue: 2
- Pages: 253-255
- Publisher: Lippincott Williams & Wilkins
- Publication type: Article
- Bibliographic status: Published
- Author Address: Metabolic Disease Center Munich-Schwabing, Institutes of Clinical Chemistry, Molecular Diagnostics and Mitochondrial Genetics, Academic Hospital Schwabing, Munich, Germany.
- URL: http://dx.doi.org/10.1212/01.wnl.0000194241.35115.7c
- DOI: 10.1212/01.wnl.0000194241.35115.7c
- ISSN (electronic): 1526-632X
Keywords: Adult Creatine Kinase/blood Delivery, Obstetric Disease Progression Electron Transport Complex I/deficiency Electron Transport Complex III/deficiency Female Humans Lactic Acid/blood Lipid Metabolism Male Metabolism, Inborn Errors/ complications Muscle Weakness/etiology Muscle, Skeletal/ enzymology/metabolism Muscular Diseases/drug therapy/ etiology/pathology/physiopathology Pregnancy Pregnancy Complications/etiology/physiopathology Ubiquinone/ analogs & derivatives/deficiency/therapeutic use
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Dr Rita Horvath
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Professor Hanns Lochmuller
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