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Glossary of Terms Related to Congenital Muscle Disease

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Term Definition
Immunostaining

The staining of a specific substance, such as muscle tissue, to identify and visualize the tissue

Inframe Mutation

A mutation that does not cause a shift in the triplet reading frame; such mutations can, however, lead to an abnormal protein product

Insertion 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 an insertion, one or more letters are inserted. 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.

Introns/Exons

Genes have both noncoding (introns) and coding (exons) regions. The noncoding regions contain genetic information that gets cut out when the genetic information goes from DNA to RNA and is not integral to protein manufacture. Point mutations in the introns usually have no effect, unless they cause a shift in the reading frame through an insertion or deletion. Exons contain the actual genetic information that will be used to manufacture proteins. Point mutations, insertions, duplications and deletions all are types of mutations that change the genetic code and can lead to disease.

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