PatientCrossroads CMD


Glossary of Terms Related to Congenital Muscle Disease

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Term Definition
Dominant Negative

This describes the mechanism by which a dominant mutation can cause disease. A mutation whose gene product adversely affects the normal (wild type) gene product within the same cell. The mutated copy may associate with the normal copy and cause dysfunction of both. In some cases, such as collagen (Ullrich CMD), one dominant negative mutation may be more harmful than having one mutation causing the production of no gene product (null mutation or null alleles), which only cause disease when present in both gene copies so that absolutely no product can be made.

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