GFPT1-myasthenia: Clinical, structural, and electrophysiologic heterogeneity

OBJECTIVE: To identify patients with GFPT1-related limb-girdle myasthenia and analyze phenotypic consequences of the mutations. METHODS: We performed genetic analysis, histochemical, immunoblot, and ultrastructural studies and in vitro electrophysiologic analysis of neuromuscular transmission. RESUL...

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Bibliografiska uppgifter
Huvudupphovsmän: Selcen, Duygu, Shen, Xin-Ming, Milone, Margherita, Brengman, Joan, Ohno, Kinji, Deymeer, Feza, Finkel, Richard, Rowin, Julie, Engel, Andrew G.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Lippincott Williams & Wilkins 2013
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3772836/
https://ncbi.nlm.nih.gov/pubmed/23794683
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e31829c5e9c
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