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Glossary of Terms Related to Congenital Muscle Disease

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Term Definition
Autosomal Recessive

Most forms of CMD are inherited in an autosomal recessive fashion. This means both parents contribute a mutation in the same gene to their child. The child must have both mutations to have CMD. The parents are both carriers of CMD and are unaffected. The child may inherit a different mutation from each parent in the same gene (heterozygous). If the child inherits the same mutation from both parents, it is called homozygous.

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