Immunohistochemistry on a panel of Emery–Dreifuss muscular dystrophy samples reveals nuclear envelope proteins as inconsistent markers for pathology

Phu Le Thanh,Peter Meinke, Nadia Korfali,Vlastimil Srsen,Michael I. Robson,Manfred Wehnert,Benedikt Schoser,Caroline A. Sewry,Eric C. Schirmer

Neuromuscular Disorders（2017）

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摘要

•Altered distribution of EDMD-linked proteins is not a general characteristic of EDMD.•Tissue-specific proteins exhibit altered distributions in some EDMD patients.•Variation in redistributed proteins in EDMD may underlie its clinical variability.

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关键词

Emery–Dreifuss muscular dystrophy,Nuclear envelope,Muscle biopsy,Nuclear envelope transmembrane protein

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