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Appearance (A,B) and visceral fat area on CT of the patients (C,D).
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F1
He was thin, i.e., his height was 174 cm and he weighed 52 kg (Figure 1).
Southern blot analysis of the patients' genomic DNA samples digested with EcoRI (A) or BglI (B) and then probed with the BamHI fragment containing the DMPK CTG repeat region. (A) Lane 1, genomic DNA from a control individual with an EcoRI polymorphism in one allele. Lane 2, case 1. Lane 3, case 2.
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F2
The number of CTG repeats in the DMPK gene was abnormally expanded to about 600 repeats in the elder brother and about 900 repeats in the younger sister, in contrast to those of healthy individuals who have 5 to 37 repeats, thereby confirming the diagnosis of DM1 in these siblings (Figure 2).
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