Atypical Phenotype of Myotonic Dystrophy Type 1 with Variant Repeats at the Age of Diagnosis

Myotonic dystrophy type 1 (DM1) is caused by an expansion of CTG repeats in the <i>DMPK</i> gene. In a proportion of patients, the expanded allele contains variant repeats, which have been associated with later disease onset and different clinical presentation, although their full impact remains inc...

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主要な著者:	Nemanja Radovanovic, Jovan Pesovic, Vanja Viric, Nikola Andrejic, Ivo Bozovic, Goran Brajuskovic, Dusanka Savic-Pavicevic, Stojan Peric
フォーマット:	Artigo
言語:	Inglês
出版事項:	MDPI AG 2026-07-01
シリーズ:	Biology
主題:	myotonic dystrophy type 1 variant repeats repeat interruptions <i>DMPK</i> repeat expansion genetic modifier
オンライン･アクセス:	https://www.mdpi.com/2079-7737/15/13/1081
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