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Article

[Intergenerational study of the mutation that causes Myotonic Dystrophy Type 1 in Costa Rica].

Revista de neurologia - 1 Jan 2000

Morales Montero F, Cuenca Berger P, Brian Gago R, Sittenfeld M, del Valle G

Abstract excerpt

INTRODUCTION: Myotonic dystrophy type 1 is a neuromuscular, degenerative and progressive disease, with an autosomal dominant pattern of inheritance, variable expressivity and incomplete penetrance. The genetic defect is an unstable mutation due to the expansion of the triplet CTG in the 3 unstranslated region at the DMPK gene on chromosome 19q13.3. OBJECTIVE: The main objective was to study the intergenerational...

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PMID: 12577208

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DMPK

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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