In summary, the female manifesting carrier of DMD mutation is a challenging condition for diagnosis which often relies on a clear X-linked family history of dystrophinopathy.
The manifesting carrier in Duchenne muscular dystrophy.
In DMD, BMD, and manifesting carriers, cardiomyopathy should always be considered.
A survey of manifesting carriers of Duchenne and Becker muscular dystrophy in Wales.
For disease modeling of a manifesting carrier of DMD in vitro, the correct understanding of the XCI status of female iPS cells and hiPS-derived skeletal muscle is needed.
Interestingly, skeletal muscle cells differentiated from manifesting carrier of DMD-derived hiPSCs with XaXa patterns expressed dystrophin.
Patient 609 (41 years old) is a manifesting carrier of Duchenne muscular dystrophy.
Fibroblasts from a manifesting carrier (patient 609) were first infected with an all-in-one retroviral vector expressing OCT4, KLF4, SOX2, LIN28, and NANOG and replated on STO feeder cells; five clones were obtained (609-2, 609-4, 609-5, 609-9, and 609-12), Next, the same fibroblasts were infected with four Sendai viral vectors encoding for SOX2, KLF4, OCT4, or c-MYC and replated on SNL feeder cells (Figure 1).
