Tags

Type your tag names separated by a space and hit enter

Coenzyme Q10 deficiency and isolated myopathy.
Neurology. 2006 Jan 24; 66(2):253-5.Neur

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.

Authors+Show Affiliations

Metabolic Disease Center Munich-Schwabing, Institutes of Clinical Chemistry, Molecular Diagnostics and Mitochondrial Genetics, Academic Hospital Schwabing, Munich, Germany.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

16434667

Citation

Horvath, R, et al. "Coenzyme Q10 Deficiency and Isolated Myopathy." Neurology, vol. 66, no. 2, 2006, pp. 253-5.
Horvath R, Schneiderat P, Schoser BG, et al. Coenzyme Q10 deficiency and isolated myopathy. Neurology. 2006;66(2):253-5.
Horvath, R., Schneiderat, P., Schoser, B. G., Gempel, K., Neuen-Jacob, E., Plöger, H., Müller-Höcker, J., Pongratz, D. E., Naini, A., DiMauro, S., & Lochmüller, H. (2006). Coenzyme Q10 deficiency and isolated myopathy. Neurology, 66(2), 253-5.
Horvath R, et al. Coenzyme Q10 Deficiency and Isolated Myopathy. Neurology. 2006 Jan 24;66(2):253-5. PubMed PMID: 16434667.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Coenzyme Q10 deficiency and isolated myopathy. AU - Horvath,R, AU - Schneiderat,P, AU - Schoser,B G H, AU - Gempel,K, AU - Neuen-Jacob,E, AU - Plöger,H, AU - Müller-Höcker,J, AU - Pongratz,D E, AU - Naini,A, AU - DiMauro,S, AU - Lochmüller,H, PY - 2006/1/26/pubmed PY - 2006/3/15/medline PY - 2006/1/26/entrez SP - 253 EP - 5 JF - Neurology JO - Neurology VL - 66 IS - 2 N2 - 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. SN - 1526-632X UR - https://www.unboundmedicine.com/medline/citation/16434667/Coenzyme_Q10_deficiency_and_isolated_myopathy_ DB - PRIME DP - Unbound Medicine ER -