Coenzyme Q10 Deficiency and Isolated Myopathy

Overview

Journal Neurology

Specialty Neurology

Date 2006 Jan 26

PMID 16434667

Citations 38

Authors

R Horvath

P Schneiderat

B G H Schoser

K Gempel

E Neuen-Jacob

H Ploger

J Muller-Hocker

D E Pongratz

A Naini

S DiMauro

H Lochmuller

Affiliations

Soon will be listed here.

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.

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