Function and biomechanics of dysferlin-deficient skeletal muscle

Dysferlinopathies are a group of muscular dystrophies caused by genetic deficiency of the protein dysferlin. Manifesting post-growth, the disease is characterised by progressive skeletal muscle wasting in the limbs, inflammation, and replacement of muscles by adipose tissue. This thesis investigated the impact of dysferlin-deficiency on skeletal muscle function and biomechanics, using techniques including muscle physiology and a novel elastography technique developed in this thesis. This research highlights the complexities of the dysferlinopathy pathology, emphasising the need to consider influence of myofibre-type and age, and involvement of many interlinked systems when seeking to elucidate the mechanistic basis of the disease.