Function and biomechanics of dysferlin-deficient skeletal muscle

Research output: ThesisDoctoral Thesis

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Abstract

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.
Original languageEnglish
QualificationDoctor of Philosophy
Awarding Institution
  • The University of Western Australia
Supervisors/Advisors
  • Choi, Yu Suk, Supervisor
  • Pinniger, Gavin, Supervisor
  • Grounds, Miranda, Supervisor
  • Kennedy, Brendan, Supervisor
Thesis sponsors
Award date17 Feb 2023
DOIs
Publication statusUnpublished - 2023

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