The phenotype and genotype of congenital myopathies based on a large pediatric cohort

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.

Source: Pediatric Neurology - November 5, 2020 Category: Neurology Authors: Daniel Natera-de Benito, Carlos Ortez, Cristina Jou, Cecilia Jimenez-Mallebrera, Anna Codina, Laura Carrera-Garc ía, Jessica Expósito-Escudero, Sergi Cesar, Loreto Martorell, Pia Gallano, Lidia Gonzalez-Quereda, Daniel Cuadras, Jaume Colomer, Delia Yube Tags: Research Paper Source Type: research