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Genetic Heterogeneity - Charcot-Marie-Tooth Disease | Experts in CMT

Genetic Heterogeneity

Many Roads, One Disease

Genetic heterogeneity (het-er-oh-juh-NEE-ih-tee) means that different genetic causes can produce the same or a very similar disease. It takes two main forms. Allelic heterogeneity is when different mutations within the same gene lead to the same disease. Locus heterogeneity is when mutations in entirely different genes cause the same disease. CMT is a strong example: many different genes, and many different variants within them, can all produce the disease.

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