Abstract
Investigators at Washington University School of Medicine, St Louis, MO, evaluated retrospectively clinical, laboratory, and muscle histochemistry and oxidative enzyme characteristics in 49 children with suspected mitochondrial disorders.
Highlights
An increased frequency of type 2C fibers in morphologically normal muscle is a sensitive and specific histological marker of CoQ10 deficiency in a child suspected of having a mitochondrial disorder
Clinical syndromes associated with CoQ10 deficiency are diverse and include myopathy, cerebellar ataxia, nephrotic syndrome, and encephalopathy including Leigh syndrome
Five articles contained data on 48 normal children studied with repetitive nerve stimulation (RNS) and only 1 article with data on single fiber electromyography (SFEMG) in 20 normal children were located
Summary
Investigators at Washington University School of Medicine, St Louis, MO, evaluated retrospectively clinical, laboratory, and muscle histochemistry and oxidative enzyme characteristics in 49 children with suspected mitochondrial disorders. Children (n=18) with CoQ10 deficiency in muscle were compared to 31 with normal CoQ10 values. Motor delay/hypotonia and cognitive/language delay were the most frequent clinical features in CoQ10-deficient and control groups.
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