Steinert's myotonic dystrophy or DM1 is a monogenic disease that is inherited in an autosomal dominant manner. This means that only one copy of the affected gene is necessary to manifest the disease. The etiology of DM1 is an expansion of the CTG triplet of the DMPK gene located on chromosome 19. When a mutation occurs, the CTG triplet is repeated more than 50 times.
As a consequence of this disease, affected individuals will have muscle atrophy, arrhythmias, cataracts and sleep disorders.
Read the full article on: What Are Monogenic Disorders? – Classification & Most Common Types ( 70).
By Marta Barranquero Gómez B.Sc., M.Sc. (embryologist), Zaira Salvador B.Sc., M.Sc. (embryologist) and Sandra Fernández B.A., M.A. (fertility counselor).
Last Update: 04/05/2024
