Enzymes of Purine Metabolism in Muscle Specimens from Patients with Duchenne-Type Muscular Dystrophy
Duchenne-type Muscular Dystrophy (DMD), the most well-known of the muscular dystrophies, is inherited as an X-linked recessive trait (1). This implicates that it becomes manifest mainly in males and it is transmitted by asymptomatic female heterozygotes (2). The primary manifestation is progressive muscle weakness, but there are more organs that are progressively affected; e.g. heart and brain. The primary gene defect is unknown, but the evidence available at present suggests a defect of the sarcolemnal membrane (1).
KeywordsAdenylate Kinase Purine Metabolism Recessive Trait Muscle Specimen Progressive Muscle Weakness
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