Female Carriers of Duchenne Muscular Dystrophy
Author:
Affiliation:
1. Department of Neurology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea
Publisher
Korean Society of Medical Genetics
Subject
General Medicine
Link
http://pdf.medrang.co.kr/JGM/2013/010/KSMGG6_2013_v10n2_94.pdf
Reference61 articles.
1. The manifesting carrier in Duchenne muscular dystrophy
2. A survey of manifesting carriers of Duchenne and Becker muscular dystrophy in Wales
3. Dystrophinopathy in isolated cases of myopathy in females
4. Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy
5. Duchenne GB. De l'électrisation localisée et de son application à la physiologie, à la pathologie et à la thérapeutique. 2nd Ed. Paris: Baillière; 1861.
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2. An Ultra-Rare Manifestation of an X-Linked Recessive Disorder: Duchenne Muscular Dystrophy in a Female Patient;International Journal of Molecular Sciences;2022-10-28
3. Newborn Screening for Duchenne Muscular Dystrophy: First Year Results of a Population-Based Pilot;International Journal of Neonatal Screening;2022-09-22
4. A Paucisymptomatic HyperCKemia Patient Diagnosed with Manifesting Female Duchenne Muscular Dystrophy Carrier;Korean Journal of Neuromuscular Disorders;2022-06-30
5. Newborn screening for Duchenne muscular dystrophy‐early detection and diagnostic algorithm for female carriers of Duchenne muscular dystrophy;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2022-06
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