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Glossary of Terms Related to Congenital Muscle Disease

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Term Definition
PCR

Polymerase Chain Reaction: a process that produces millions of copies of a short segment of DNA. PCR is a very common procedure in molecular genetic testing and may be used to: 1) generate a sufficient quantity of DNA to perform a test, or 2) may be a test in and of itself.

Pulmonologist

A physician trained to specialize in lung diseases. These diseases include breathing problems in muscle disease, asthma and emphysema. A pulmonologist may not be familiar with how best to diagnose and treat an individual with CMD is having breathing problems.

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