P342 An early onset benign myopathy with glycogen storage caused by a de novo 1.3 microdeletion of chromosome 14

Autor: Severa, G., Fiorillo, C., Scala, M., Taglietti, V., Cojocaru, A., Tachdjian, G., Jouni, D., Tosca, L., Authier, F., Carlier, R., Verebi, C., Metay, C., Malfatti, E.
Zdroj: In Neuromuscular Disorders October 2023 33 Supplement 1:S180-S181
Databáze: ScienceDirect