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The use of buccal cells for rapid diagnosis of myotonic dystrophy type 1

Type 1 myotonic dystrophy (DM1) is an autosomal dominant disorder caused by a CTG repeat expansion. RNA containing expanded CUG repeats does not leave the nucleus, but accumulates in discrete nuclear foci which sequester the human muscleblind-like (MBNL) proteins. We have examined buccal cells from 15 adult DM1 patients and 7 control non-DM patients to determine whether nuclear foci can be detected by either immunostaining for MBNL1 protein or fluorescent in situ hybridisation (FISH) for the CUG repeat RNA. Both methods detected nuclear foci in all three early-onset patients, but only in a minority of 12 less severe DM1 patients. There were no false-positive results in the 7 controls. Although the method does not reliably identify all DM1 patients, it may prove useful as a rapid test for severe congenital DM1 in floppy babies.