RUNNING ON EMPTY: KEEPING UP WITH METABOLIC MYOPATHIES
December 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
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.
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.