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

Farlex Partner Medical Dictionary © Farlex 2012

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).

Mentioned in ?

manifesting heterozygote

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.

A De novo Mutation in Dystrophin Causing Muscular Dystrophy in a Female Patient

Particularly, a wild-type dystrophin allele was expressed in multinucleated myotubes differentiated from a manifesting carrier of DMD-iPSCs with a XaXa pattern.

Skeletal Muscle Cells Generated from Pluripotent Stem Cells

She is herself a manifesting carrier of Duchenne muscular dystrophy, which has given her a serious heart condition and muscle weakness.

We can't find a home because we're disabled; Mum hits out at 'benefits stigma'

"From these findings it is highly unlikely that Mrs Griffiths is a manifesting carrier for Duchenne muscular dystrophy."

WALES: I needlessly aborted two children and took life when it was unnecessary ... I still think of how they would have turned out; MUM'S LIFE 'RUINED' AS MUSCULAR DYSTROPHY MISDIAGNOSIS LED TO LOSS OF UNBORN BABY BOYS DAILY POST EXCLUSIVE

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).

Induction of Pluripotent Stem Cells from a Manifesting Carrier of Duchenne Muscular Dystrophy and Characterization of Their X-Inactivation Status

Gardner-Medwin, "Variability in clinical, genetic and protein abnormalities in manifesting carriers of Duchenne and Becker muscular dystrophy," Neuromuscular Disorders, vol.

Gestational Outcomes of Pregnant Women Who Have Had Invasive Prenatal Testing for the Prenatal Diagnosis of Duchenne Muscular Dystrophy