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Glossary of Terms Related to Congenital Muscle Disease

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Term Definition
Nonsense Mutation (premature stop codon)

A nonsense mutation refers to a point mutation that changes a genetic sequence into a 3 letter code for a stop sign. If a stop sign arises in the middle of a gene because of a mutation, then when the gene encodes first mRNA and then a protein, a truncated or shortened protein will be made. Most of these shortened proteins are not functional and are destroyed by the cell.

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