Article
Duchenne/Becker muscular dystrophy in the family: have potential carriers been tested at a molecular level?
Clinical genetics - 1 Mar 2011
Helderman-van den Enden A T J M, van den Bergen J C, Breuning M H, Verschuuren J J G M, Tibben A, Bakker E, Ginjaar H B
Abstract excerpt
Duchenne muscular dystrophy (DMD) is the most common inherited neuromuscular disease. After identification of the mutation in the index patient, family members can be reliably investigated. Carriers should be informed about their risk of having offspring with the disease and about their own risk for cardiomyopathy for which regular cardiac surveillance is recommended. In a small country like the Netherlands with...
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