Identification, molecular characterization and segregation analysis of a variant DMPK pre-mutation allele in a three-generation Italian family
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DM1 is an autosomal dominant multisystemic disease caused by an unstable CTG repeat expansion in the 3'-untranslated region (UTR) of the DMPK gene. The complex variant DMPK expanded the alleles containing CAG, CCG, CTC and/or GGC interruptions repetition seque... ...
