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Glossary of Terms Related to Congenital Muscle Disease

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Term Definition
Frameshift 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. A frameshift mutation occurs when you either have a deletion, (one or more letters are removed) or an insertion (one or more letters are inserted). In the case of a deletion, 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. Similarly with an insertion, if two letters BX and were inserted after MAN, reading the genetic language in DNA would not make sense: THE MAN BXH ASC ATA NDH AT.

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