Outdated risk assessment in a family with Duchenne dystrophy: Implications for duty to reassess

Carrier risk assessment for Duchenne muscular dystrophy (DMD) is necessary to counsel women at risks of developing cardiomyopathy and having a child with DMD. Comprehensive molecular testing for dystrophin gene mutations has only been available since 20031; women counseled earlier have outdated risk assessments. We present a 5-generation family in whom results of familial mutation testing for DMD newly identified 10 obligate carriers and 28 women at risk to be carriers for DMD.

• Publication year

  2016

• Venue

  Neurology: Genetics

• Publication date

  2016-10-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1212/NXG.0000000000000103PMID 27761522PMCID 5053118
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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