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Stabilizes the sarcollema protects muscle fibre during contraction
Forms the dystrophin-glycoprotein complex
Duchennes Muscular Dystrophy
X linked recessive
pseudohypertrophy due to accumulation of muscle and fat
Accumulation of glycogen
Impaired ability to produce lactic acid
Dysfunction in muscle membrane
Leaking K+ back into cells
Initial inexciteability and thus paralysis
Myotonic dystrophy: Hyper-excitability and delayed relaxation of muscle
Can cause mitochondrial, metabolic, membrane, muscular disorder
Used to investigate disorders with major genetic component
Single gene disorders are easiest to identify
May require blood/ muscle samples
Used to detect DMD and Becker
Dystrophin labelling -DMD
Enzymes of glycolysis- Mc Ardles
Enzymes of oxidative metabolism
Measure action potential of muscle
Useful to measure alterations in muscle action potential
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