Assessment of ANKRD1, ANKRD2 and LMOD2 as candidate genes for myopathies

Approximately half of the patients with inherited muscle disease do not receive a genetic diagnosis. This is in part because not all disease-associated genes have been identified. This thesis characterises three genes to determine their disease-causing potential when mutated, suggesting that two of the genes should be added to diagnostic panels to improve the rate of genetic diagnosis for myopathy patients.