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Glossary of Terms Related to Congenital Muscle Disease

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Term Definition
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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