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  • 8/16/2019 Dok7

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顔面肩甲上腕型筋ジストロフィーと診断されていた...DOK 型筋無力症の1例 54：563 などに関与している．DOK7 遺伝子の両アリル性の異常で

PTOSI OCULARE: APPROCCIO DIAGNOSTICO IN NPI · - N-glycosylation pathway GFPT1* (“Limb-girdle” pattern così come DOK7 ma senza ptosi o oftalmoparesi) DPAGT1, ALG2, ALG1, ALG14

Laborinformation Lrp4-Autoantikörper · Lrp4 ˜-Propeller MuSK Ig1 Ig2 Ig3 FZ Tyrosin-kinase LDLa EGF} EGF EGF 1 SRC PP P Rapsyn P P P Dok7 P Agrin 2 SRC PP P Rapsyn P P P Acetylcholonrezeptoren

DOK7 gene therapy enhances motor activity and life …embomolmed.embopress.org/content/embomm/9/7/880.full.pdf · Report DOK7 gene therapy enhances motor activity and life span in

PTOSI OCULARE: APPROCCIO DIAGNOSTICO IN NPI Oculare.pdf · - N-glycosylation pathway GFPT1* (“Limb-girdle” pattern così come DOK7 ma senza ptosi o oftalmoparesi) DPAGT1, ALG2,