Key result
A 55-year-old female DMD carrier presents with subclinical cardiomyopathy, highlighting the need for genetic testing.
Why the study?
Genetic testing has become increasingly important for the diagnosis, prognostication, and identification of individuals with dystrophinopathies who may benefit from targeted therapies.
Case Report (n=1)
This case highlights the importance of recognizing manifesting female carriers of Duchenne muscular dystrophy and the utility of cardiac MRI in detecting subclinical cardiomyopathy to initiate early cardioprotective therapy.
Answers are grounded in this paper and cite their sources.
Supports targeted genetic testing for therapy eligibility in Singapore patients; extends Asian mutational data for trial planning.
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Lin et al. (2023) conducted a case report in Duchenne muscular dystrophy (manifesting carrier) (n=1). DMD gene mutation (carrier) was evaluated. A 55-year-old female manifesting carrier of Duchenne muscular dystrophy presented with proximal myopathy and subclinical cardiomyopathy, emphasizing the need for genetic testing.
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