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Glossary of Terms Related to Congenital Muscle Disease

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Term Definition
Autosomal Dominant

Some forms of CMD, in particular Ullrich and lamin A/C related CMD, may be inherited in an autosomal dominant fashion. Autosomal dominant means you need only one mutation to have the disease. Autosomal dominant diseases usually have an affected parent, because the parent carries one mutated copy of the gene which then gets passed to the child who has the disease. More often in families with a child affected by CMD, the mutation will be a de novo mutation, meaning it has arisen spontaneously, and the parent does not have it, but the child does.

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