Key result
Manifesting carriers of Duchenne muscular dystrophy exhibited skewed X inactivation, whereas unaffected carriers showed almost symmetrical inactivation.
Why the study?
Does the pattern of X inactivation differ between manifesting carriers, unaffected carriers of Duchenne muscular dystrophy, and healthy controls?
Population
4 manifesting carriers of familial and sporadic Duchenne muscular dystrophy, 5 unaffected carriers of DMD…
Design
Case-control
Authors
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Skewed X inactivation was associated with manifesting DMD carriers; hypothesis-generating for prognosis, needs prospective validation before clinical use.
Observational (n=41)
Does the pattern of X inactivation differ between manifesting carriers, unaffected carriers of Duchenne muscular dystrophy, and healthy controls?
Skewed X inactivation is strongly associated with manifesting Duchenne muscular dystrophy in female carriers and may provide important prognostic information for progressive myopathy.
Yoshioka et al. (1998) conducted an observational in Duchenne muscular dystrophy (n=41). Manifesting DMD carrier status vs. Unaffected DMD carriers and healthy female controls was evaluated on X inactivation pattern (skewed vs symmetrical). Manifesting carriers of Duchenne muscular dystrophy exhibited skewed X inactivation, whereas unaffected carriers showed almost symmetrical inactivation.
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