Coenzyme Q10 deficiency and isolated myopathy
R Horvath, P Schneiderat, BGH Schoser, K Gempel… - Neurology, 2006 - AAN Enterprises
R Horvath, P Schneiderat, BGH Schoser, K Gempel, E Neuen-Jacob, H Ploger…
Neurology, 2006•AAN EnterprisesThree 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.
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.
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.
American Academy of Neurology