GFPT1-myasthenia Clinical, structural, and electrophysiologic heterogeneity

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Selcen D., Shen X., Milone M., Brengman J., Ohno K., Deymeer F., ...More

NEUROLOGY, vol.81, no.4, pp.370-378, 2013 (SCI-Expanded)

• Publication Type: Article / Article
• Volume: 81 Issue: 4
• Publication Date: 2013
• Doi Number: 10.1212/wnl.0b013e31829c5e9c
• Journal Name: NEUROLOGY
• Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
• Page Numbers: pp.370-378
• Istanbul University Affiliated: Yes

Abstract

Objective: To identify patients with GFPT1-related limb-girdle myasthenia and analyze phenotypic consequences of the mutations.