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Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy

Berta Estevez-Arias,Leslie Matalonga,Loreto Martorell,Anna Codina,Carlos Ortez,Laura Carrera-Garcia,Jessica Exposito-Escudero,Delia Yubero,Janet Hoenicka,Cristina Jou,Francesc Palau,Sergi Beltran,Hanns Lochmuller,Ana Topf,Andres Nascimento,Daniel Natera-de Benito

JOURNAL OF NEUROMUSCULAR DISEASES（2024）

引用 1|浏览32
关键词
Congenital myopathy,RYR1,mosaicism,genome sequencing
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