Key result
Manifesting female carriers of Duchenne muscular dystrophy presented with inconsistent clinical features, and multiplex ligation-dependent probe amplification was essential for accurate genetic diagnosis.
Population
3 female manifesting carriers of Duchenne muscular dystrophy, ages 9, 32, and 34 years, presenting with…
Design
Case_series
Authors
Loading...
Alerts clinicians to MLPA testing in suspected manifesting DMD carriers with negative PCR; leaves open need for larger validation studies.
Case Report (n=3)
No
MLPA and dystrophin immunohistochemistry are essential for accurately diagnosing manifesting female carriers of Duchenne muscular dystrophy, who may present with inconsistent clinical features and negative conventional PCR results.
Song et al. (2010) conducted a case report in Duchenne muscular dystrophy (manifesting female carriers) (n=3). Multiplex ligation-dependent probe amplification (MLPA) and immunohistochemistry was evaluated on Clinical, pathological, and genetic features. Manifesting female carriers of Duchenne muscular dystrophy presented with inconsistent clinical features, and multiplex ligation-dependent probe amplification was essential for accurate genetic diagnosis.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: