Coenzyme Q10 deficiency and isolated myopathy
- 24 January 2006
- journal article
- case report
- Published by Wolters Kluwer Health in Neurology
- Vol. 66 (2) , 253-255
- https://doi.org/10.1212/01.wnl.0000194241.35115.7c
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.Keywords
This publication has 10 references indexed in Scilit:
- Isolated Mitochondrial Myopathy Associated With Muscle Coenzyme Q10 DeficiencyArchives of Neurology, 2005
- Progression despite replacement of a myopathic form of coenzyme Q 10 defectNeurology, 2004
- Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiencyNeurology, 2004
- Cerebellar ataxia and coenzyme Q10 deficiencyNeurology, 2003
- Coenzyme Q– responsive Leigh's encephalopathy in two sistersAnnals of Neurology, 2002
- Coenzyme Q 10 reverses pathological phenotype and reduces apoptosis in familial CoQ 10 deficiencyNeurology, 2001
- Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiencyThe Lancet, 2000
- Mitochondrial encephalomyopathy with coenzyme Q 10 deficiencyNeurology, 1997
- Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy.Proceedings of the National Academy of Sciences, 1989
- A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme QEuropean Journal of Pediatrics, 1986