P.10 Compound CACNA1S heterozygosity resulting in a novel phenotype of congenital myopathy and early onset periodic paralysis: report of two probands

Autor: Aburahma, S., Shboul, M., Lucchiari, S., Comi, G., Meola, G., Pagliarani, S.
Zdroj: In Neuromuscular Disorders October 2022 32 Supplement 1:S47-S47
Databáze: ScienceDirect