GFPT1-myasthenia Clinical, structural, and electrophysiologic heterogeneity

Tarih
2013
Yazar
Finkel, Richard
Deymeer, Feza
Ohno, Kinji
Rowin, Julie
Engel, Andrew G.
Selcen, Duygu
Shen, Xin-Ming
Milone, Margherita
Brengman, Joan
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Özet
Objective: To identify patients with GFPT1-related limb-girdle myasthenia and analyze phenotypic consequences of the mutations.
Bağlantı
http://hdl.handle.net/20.500.12627/146915
https://doi.org/10.1212/wnl.0b013e31829c5e9c
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