Hundreds of mutations can cause varying degrees of muscular dystrophy.
(Note that there are two hypotheses for how deleterious mutations can cause the extinction of asexuals, Muller's ratchet and Kondrashov's hatchet; here, I am describing Kondrashov's hatchet. Unlike the ratchet, the hatchet does not depend on population size).
Since PTRF mutations can cause a deficiency in Cav3, these patients are considered to be at risk of developing MH.
Bi-allelic CYP24A1 mutations can cause idiopathic infantile hypercalcemia (IIH), adult-onset nephrocalcinosis, and possibly bone metabolism disturbances.
Patients with ARTEMIS deficiency usually present with severe combined immunodeficiency (SCID) and cellular radiosensitivity, but hypomorphic mutations can cause milder phenotypes (leaky SCID).
These mutations can cause cancer.
At the cellular level, mutations can cause alterations in protein function and regulation.
Mutations can cause small changes in the hemagglutinin and neuraminidase antigens on the surface of the virus.
In the process called adaptation, selection for beneficial mutations can cause a species to evolve into forms better able to survive in their environment.
In addition to non-autonomous hyperplastic growth in genetic mosaics, ept and vps25 mutations can cause neoplastic overgrowth.
Mutations can cause a lack of function by direct impairment of protein activity, by a lack of protein expression or by its incorrect trafficking.
