manifesting carrier

man·i·fest·ing het·er·o·zy·gote

an organism heterozygous for what is ordinarily a recessive condition that, as a result of special mechanisms (such as lyonization, allelic exclusion, or a deletion in the homologous chromosome), has phenotypic manifestations.
Synonym(s): manifesting carrier

manifesting carrier

A term of art for a person—typically a woman—who is a heterozygous carrier of a gene, the mutation of which is fully expressed in males (e.g., DMD, the gene defective in Duchenne muscular dystrophy), and who has partial expression of the defective gene (e.g., camptocormia).
References in periodicals archive ?
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.
Particularly, a wild-type dystrophin allele was expressed in multinucleated myotubes differentiated from a manifesting carrier of DMD-iPSCs with a XaXa pattern.
She is herself a manifesting carrier of Duchenne muscular dystrophy, which has given her a serious heart condition and muscle weakness.
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).
Gardner-Medwin, "Variability in clinical, genetic and protein abnormalities in manifesting carriers of Duchenne and Becker muscular dystrophy," Neuromuscular Disorders, vol.