Transcriptome and Genome Analysis Uncovers a DMD Structural Variant: A Case Report

Duchenne muscular dystrophy (DMD) is caused by pathogenic variants in the dystrophin gene ( ). Hypermethylated CGG expansions within 5' UTR are associated with an intellectual development disorder. Here, we demonstrate the diagnostic utility of genomic short-read sequencing (SRS) and transcript...

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Veröffentlicht in:	Neurology. Genetics 2023-04, Vol.9 (2), p.e200064-e200064
Hauptverfasser:	Folland, Chiara, Ganesh, Vijay, Weisburd, Ben, McLean, Catriona, Kornberg, Andrew J., O'Donnell-Luria, Anne, Rehm, Heidi L., Stevanovski, Igor, Chintalaphani, Sanjog R., Kennedy, Paul, Deveson, Ira W., Ravenscroft, Gianina
Format:	Artikel
Sprache:	eng
Schlagworte:	Clinical/Scientific Note
Online-Zugang:	Volltext
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