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Glossary of Terms Related to Congenital Muscle Disease

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Term Definition
DNA

The genetic language. It is contained within the cell’s nucleus in the form of chromosomes. The DNA alphabet is made up of 4 different nucleotides, adenine, guanine, thymine and cytosine, abbreviated AGTC. The genetic language is “read” in triplets so AGT, CTA (much like you read off your credit card number in sets of four, DNA is sets of three). These codons or sets of three are first transcribed into RNA and then encode a particular amino acid that when put next to another amino acid forms a particular protein. Some sets of three represent stop signs or pauses in the reading frame. Sometimes a mutation (or change) in one letter of the DNA alphabet creates a stop sign where an amino acid should be coded. This is one example of a mutation called a nonsense mutation.

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