263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, The Netherlands, 13-15 May 2022
Neuromuscular Disorders(2023)
摘要
•DMD female carriers are a complex clinical and still neglected patient group.•Greater clinical and research focus on DMD female carriers is needed.•Minimum care standard for DMD female carriers should include genetic testing.•Preventive and therapeutic approaches can improve patient outcomes.•Patient registries are required for natural history studies and clinical trials.
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关键词
female carriers
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