Carrier Publications & Case Reports
Extensive research on dystrophinopathy carriers has historically been limited, resulting in carriers feeling as though healthcare and insurance providers may not have a full understanding of the potential implications. PPMD has compiled publications that can be shared with your physician to help support care, manage symptoms, and support insurance coverage.
These articles have been published with the goal of educating healthcare professionals and are written on a high academic level. For community educational materials, click here.
If you have questions or would like to meet for individualized support, please schedule a PPMD For You meeting for a one-to-one discussion with our care team and/or genetic counselors.
Carrier Publications
- Detection and management of cardiomyopathy in carriers (2018)
- Clinical and genetic characteristics of female dystrophinopathy carriers (2019)
- Duchenne and Becker muscular dystrophy carriers: Evidence of cardiomyopathy by exercise and cardiac MRI testing (2020)
- Functional performance and muscular strength in symptomatic female carriers of Duchenne muscular dystrophy (2020)
- Parent Project Muscular Dystrophy Females with Dystrophinopathy Conference, Orlando, Florida June 26 – June 27, 2019 (2021)
- Quantitative Muscle MRI and Clinical Findings in Women With Pathogenic Dystrophin Gene Variants (2021)
- Cardiac Involvement in Women With Pathogenic Dystrophin Gene Variants (2021)
- Newborn screening for Duchenne muscular dystrophy-early detection and diagnostic algorithm for female carriers of Duchenne muscular dystrophy (2022)
- 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 (2023)
Case Reports
- Camptocormia as a late presentation in a manifesting carrier of duchenne muscular dystrophy (2012)
- Left ventricular noncompaction cardiomyopathy in Duchenne muscular dystrophy carriers (2014)
- A de-novo deletion of dystrophin provoking severe ‘peri-partum cardiomyopathy’: The importance of genetic testing in peripartum cardiomyopathy to uncover female carriers. (2015)
- Orthotopic Heart Transplantation in Manifesting Carrier of Duchenne Muscular Dystrophy (2021)
- Drug-refractory Heart Failure in Female Carrier of Duchenne Muscular Dystrophy: A Case of X-linked Dilated Cardiomyopathy (2023)
