Phenotypic stratification and genotype–phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion

Autor: Pogoryelova, Oksana *, Cammish, Phillip, Mansbach, Hank, Argov, Zohar, Nishino, Ichizo, Skrinar, Alison, Chan, Yiumo, Nafissi, Shahriar, Shamshiri, Hosein, Kakkis, Emil, Lochmüller, Hanns
Zdroj: In Neuromuscular Disorders February 2018 28(2):158-168
Databáze: ScienceDirect