No increase in the CTG repeat size during transmission from parent with expanded allele: false suspicion of contraction phenomenon

Abstract

Myotonic dystrophy type 1 (DM1), also known as Steinert’s disease, is a chronic, progressive and disabling multisystemic disorder with a broad spectrum of severity that arises from an autosomal-dominant expansion of the Cytosine-Thymine-Guanine (CTG) triplet repeat in the 3′ untranslated region of the DMPK gene (19q13.3).

Keywords

• dmpk
• myotonic dystrophy type 1
• tp-pcr limitations
• trinucleotide repeats