Key result
A nonsense mutation in exon 6 of the STA gene caused severe cardiac complications, requiring pacemakers in all 7 male and 2 of 9 female carriers, despite mild or nonexistent skeletal myopathy.
Population
16 carriers with a nonsense mutation in exon 6 of the STA gene in 2 Emery-Dreifuss muscular dystrophy…
Design
Case_series
Authors
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STA nonsense mutations may underlie isolated conduction disease; extends the cardiac phenotype of Emery-Dreifuss muscular dystrophy but remains hypothesis-generating.
Observational (n=16)
A nonsense mutation in the STA gene is associated with severe cardiac complications, including conduction disturbances requiring pacemakers and sudden death, even in patients with mild or absent skeletal myopathy.
Sakata et al. (2005) conducted an observational in Emery-Dreifuss muscular dystrophy (EDMD) (n=16). Nonsense mutation in exon 6 of the STA gene was evaluated on Cardiac manifestations including bradyarrhythmias requiring pacemakers and sudden death. A nonsense mutation in exon 6 of the STA gene caused severe cardiac complications, requiring pacemakers in all 7 male and 2 of 9 female carriers, despite mild or nonexistent skeletal myopathy.
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