This is where the genes mutate for no apparent reason, changing the way the cells function. Spontaneous gene mutations can cause MD to develop in people who don’t have a family history of the condition. In this report, we described a case of DNM1L mutation and reviewed all known cases in the literature. Patients mostly presented with nonspecific symptoms, which made diagnosis challenging.
In general, our genes enable our cells to function normally. However, sometimes the genes that were inherited have small changes, known as alterations or mutations. If one of our genes is altered or mutated, this can sometimes result in an increased risk of developing different illnesses compared to people who don’t have the genetic change. Mutation results in the formation or creation of a new character or trait.Read More »