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Glossary of Terms Related to Congenital Muscle Disease

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Term Definition
Deletion Mutation

DNA is the genetic language and is read from left to right in 3 letter words. Let us say a normal piece of DNA says “THE MAN HAS CAT AND HAT” . DNA language does not have spaces so in DNA language, above would read: THEMANHASCATANDHAT. In a deletion mutation, one or more letters are removed. For example, if the E in THE was deleted, you would have THMANHASCATANDHAT. When the copying machinery would read it out by 3, it would no longer make sense THM ANH ASC ATA NDH AT.

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