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 RUNNING ON EMPTY: KEEPING UP WITH METABOLIC MYOPATHIESDecember 1999 Quest article by Sharon Hesterlee that offers a comprehensive overview of the muscle disorders known as metabolic myopathies: 
phosphorylase deficiency (McArdle’s disease)
debrancher enzyme deficiency (Cori’s or Forbes’ disease)
phosphofructokinase deficiency (Tauri’s disease)
phosphoglycerate kinase deficiency
phosphoglycerate mutase deficiency
lactate dehydrogenase deficiency
acid maltase deficiency (Pompe’s disease)
myoadenylate deasminase deficiency
carnitine deficiency
carnitine palmitoyltransferase deficiency |
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| THE CREATINE KINASE TEST February 2000 Quest column “Simply Stated” that explains creatine kinase (CK), what it does in the muscle cell, why levels of CK elevate when muscle is damaged, how CK levels are measured and normal range. It also offers information about CK interpretation in various disorders, such as Charcot-Marie-Tooth disease, amyotrophic lateral sclerosis and Duchenne muscular dystrophy. Note: CK levels don’t always reflect the level of functional impact on the individual. For instance, in some neuromuscular disorders such as central core disease and myasthenia gravis, CK may not elevate at all. |
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MITOCHONDRIAL
CYTOPATHY IN ADULTS: WHAT WE KNOW SO FAR 
July 2001 review by Bruce H. Cohen, M.D. and Deborah R. Gold,
M.D. This paper addresses how mitochondrial diseases arise, the
presentations and diagnosis of the various known mitochondrial
diseases, and possible treatments. Note: Article is in PDF format and requires Adobe Acrobat Reader to view. |
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For a close up view of two mitochondria,
visit In graphic detail.
For more about mitochondrial disorders, visit Sausages and cells,
Double take and Goal
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