Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy.
- Resource Type
- Article
- Authors
- Estévez-Arias, Berta; Matalonga, Leslie; Martorell, Loreto; Codina, Anna; Ortez, Carlos; Carrera-García, Laura; Expósito-Escudero, Jessica; Yubero, Delia; Hoenicka, Janet; Jou, Cristina; Palau, Francesc; Beltran, Sergi; Lochmüller, Hanns; Töpf, Ana; Nascimento, Andrés; Natera-de Benito, Daniel
- Source
- Journal of Neuromuscular Diseases; 2024, Vol. 11 Issue 3, p647-653, 7p
- Subject
- Language
- ISSN
- 22143599