Article
The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort.
Pediatric neurology - 1 Feb 2021
Natera-de Benito Daniel, Ortez Carlos, Jou Cristina, Jimenez-Mallebrera Cecilia, Codina Anna, Carrera-García Laura, Expósito-Escudero Jessica, Cesar Sergi, Martorell Loreto, Gallano Pia, Gonzalez-Quereda Lidia, Cuadras Daniel, Colomer Jaume, Yubero Delia, Palau Francesc, Nascimento Andres
Abstract excerpt
BACKGROUND: Congenital myopathies (CMs) are a clinically and genetically heterogeneous group of hereditary muscular disorders. The distribution of genetic and histologic subtypes has been addressed in only a few cohorts, and the relationship between phenotypes and genotypes is only partially understood. METHODS: This is a retrospective cross-sectional data collection study conducted at a single center. The...
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