Neurology. 2006 Jan 24;66(2):253-5.
Horvath R, Schneiderat P, Schoser BG, Gempel K, Neuen-Jacob E, Ploger H, Muller-Hocker J, Pongratz DE, Naini A, DiMauro S, Lochmuller H.
Metabolic Disease Center Munich-Schwabing, Institutes of Clinical Chemistry, Molecular Diagnostics and Mitochondrial Genetics, Academic Hospital Schwabing, Munich, Germany.
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.
PMID: 16434667 [PubMed – in process]