type 1

type 1
the classic form, transmitted as an autosomal dominant trait with anticipation. It is a triplet repeat disorder associated with amplification of CTG triplet repeats in the 3′ untranslated region of the DMPK gene (locus: 19q13.2-q13.3), which encodes a protein kinase; clinical disease is associated with expansion of repeats above 50 in number, but there may be as many as 2000. Severe congenital cases are associated with the highest copy numbers, and are virtually always inherited from the mother.

Medical dictionary. 2011.

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