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Glossary of Terms Related to Congenital Muscle Disease

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Term Definition
Exon/Intron

An exon is the part of the gene that codes for the actual protein. On the chromosome the exons that make up the coding sequence for the protein are separated by introns. Upon reading of the gene, the cell cuts out the introns and puts the exons together (a process called splicing) so that the exons are now continuous with all the information necessary to make a protein. Mutations usually affect the information in exons or the way they are spliced together.

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