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Genetic counseling for the dystrophinopathies—Practice resource of the National Society of Genetic Counselors

29 Apr 2024

Abstract excerpt

The dystrophinopathies encompass the phenotypically variable forms of muscular dystrophy caused by pathogenic variants in the DMD gene. The dystrophinopathies include the most common inherited muscular dystrophy among 46,XY individuals, Duchenne muscular dystrophy, as well as Becker muscular dystrophy and other less common phenotypic variants. With increased access to and utilization of genetic testing in the...

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PMID: 38682751
DOI: 10.1002/jgc4.1892

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