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Clinically affected;deceased at age 60 from arrhythmia;well until adulthood;then slowly progressive proximal muscle weakness;cardiomyopathy with heart blockage;elbow contractures;no family history;donor subject has a five bp insertion in exon 6 at nucleotide 1712 (1712-1713insTGGGC) of the emerin (EMD) gene;resulting in a frameshift and a stop codon at amino acid 238.
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