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Article

Myotonic Dystrophy and Developmental Regulation of RNA Processing.

Comprehensive Physiology - 25 Mar 2018

Thomas James D, Oliveira Ruan, Sznajder Łukasz J, Swanson Maurice S

Abstract excerpt

Myotonic dystrophy (DM) is a multisystemic disorder caused by microsatellite expansion mutations in two unrelated genes leading to similar, yet distinct, diseases. DM disease presentation is highly variable and distinguished by differences in age-of-onset and symptom severity. In the most severe form, DM presents with congenital onset and profound developmental defects. At the molecular level, DM pathogenesis is...

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Identifiers

PMID: 29687899
DOI: 10.1002/cphy.c170002
PMCID: PMC11323716

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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