Key result
Among 44 females, manifesting DMD carriers (n=12) exhibited preferential inactivation of the normal X-chromosome, whereas non-manifesting carriers (n=21) and controls (n=11) showed random XCI.
Why the study?
Is skewed X-chromosome inactivation associated with clinical manifestations, including cardiomyopathy, in female carriers of Duchenne muscular dystrophy?
Population
44 female subjects, including 12 manifesting Duchenne muscular dystrophy carriers, 21 non-manifesting DMD…
Comparison
Determination of X-chromosome inactivation… vs Non-manifesting DMD carriers and healthy females
Design
Case-control
Authors
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May inform cardiomyopathy surveillance in DMD carriers; leaves open causal prediction pending prospective validation.
Observational (n=44)
Is skewed X-chromosome inactivation associated with clinical manifestations, including cardiomyopathy, in female carriers of Duchenne muscular dystrophy?
Clinical manifestations of Duchenne muscular dystrophy in female carriers, including cardiomyopathy, are associated with non-random, skewed patterns of X-chromosome inactivation.
Viggiano et al. (2012) conducted an observational in Duchenne muscular dystrophy (DMD) carriers (n=44). Manifesting DMD carrier status vs. Non-manifesting carriers and healthy females was evaluated on X-chromosome inactivation (XCI) pattern. Among 44 females, manifesting DMD carriers (n=12) exhibited preferential inactivation of the normal X-chromosome, whereas non-manifesting carriers (n=21) and controls (n=11) showed random XCI.
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