CLINICAL CASE REPORT ATYPICAL MYOPATHY IN A YOUNG GIRL WITH 91 CTG REPEATS IN DM1 LOCUS AND A POSITIVE DM1 FAMILY HISTORY

Abstract

Myotonic dystrophy type 1 (DM1) is an autosomal dominant inheritable disease associated with an expansion of CTG repeats in the 3′ UTR of the DMPK gene. The subject is an 11-year-old girl with atypical myopathy. Because the proband's family has a positive DM1 history, a molecular-genetic analysis for DM1 was performed. This study showed that proband had a small DMPK expansion (91 CTG repeats) although the observed myopathy would not normally be associated with DM1. These results show how the phenotypic manifestation of DM1 can have unusual symptoms with a completely unexpected relationship to genotype.

Keywords:

• CTG repeats
• DMPK gene
• expansions
• myotonic dystrophy type 1
• myopathy
• trinucleotides