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Glossary of Terms Related to Congenital Muscle Disease

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Term Definition
Missense Mutation

A missense mutation is a genetic change involving the substitution of one base in the DNA for another which results in the substitution of one amino acid in a polypeptide for another. A missense mutation is a “readable” genetic message although its “sense” (its meaning) is changed. This is in contrast to a nonsense mutation which has no meaning except to halt the reading of the genetic message.

Muscle Biopsy

A muscle biopsy is a minor surgical procedure done under general or local anesthetic, using a needle or a small incision to remove a small sample of muscle. The procedure may be done to confirm a clinical diagnosis, distinguish between nerve and muscle disorders, identify a metabolic defect of muscle, diagnose diseases of connective tissue and blood vessels, detect muscle inflammation, or rule out muscle disease. Afterwards, there may be minor discomfort and bruising at the biopsy site which usually takes a week to heal fully.

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