1 / 5

Ser Thr

MEB. kontrol.  -DG.  -DG.  -DG.  -DG. Glikozilációs zavarok. ST3GALs. B4GALTs. POMGnT1. POMT1. MEB. WWS. Sialic acid. Galactose. N-acetyl glucosamine. Mannose. Ser Thr. O. PROTEIN. 23. 14. 12. Muscle-Eye-Brain Disease.

lei
Download Presentation

Ser Thr

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. MEB kontrol  -DG  -DG  -DG  -DG Glikozilációs zavarok ST3GALs B4GALTs POMGnT1 POMT1 MEB WWS Sialic acid Galactose N-acetyl glucosamine Mannose Ser Thr O PROTEIN 23 14 12

  2. Muscle-Eye-Brain Disease

  3. Emery-Dreifuss izomdystrophia - klinikai tünetek Könyök és Achilles kontraktúrák lassan progrediáló humero-peroneális izomatrophia Cardiomyopathy vezetési blokkal

  4. Az EDMD heterogén genetikai háttere öröklôdésmenet Géntermék Gén Locus Irodalom X-linked Emerin Xq28 Bione et al. 1994 Autoszomális domináns Lamin A/C 1q21.2 Bonne et al. 1999 Autoszomális recesszív Lamin A/C 1q21.2 di Barletta et al. 2000 A heterozygóta LMNA mutációk klinikailag nagyon különbözôen manifesztálódhatnak

  5. EDMD - sejtmag proteinek defektusa Emerin: X-EDMD Lamin A/C: AD-EDMD AR-EDMD LGMD1B cardiomyopathia CMT1B2 familiáris lipodystrophia mandibuloacral dysplasia progeria A különbözô szöveti manifesztáció oka ismeretlen

More Related