Immunohistochemistry on a panel of emery-dreifuss muscular dystrophy samples reveals nuclear envelope proteins as inconsistent markers for pathology

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

Saved in:

Bibliographic Details
Published in:	Neuromuscular disorders : NMD Vol. 27; no. 4; pp. 338 - 351
Main Authors:	Le Thanh, Phu, Meinke, Peter, Korfali, Nadia, Srsen, Vlastimil, Robson, Michael I, Wehnert, Manfred, Schoser, Benedikt, Sewry, Caroline A, Schirmer, Eric C
Format:	Journal Article
Language:	English
Published:	England Elsevier B.V 01-04-2017 Pergamon Press
Subjects:	Adolescent Adult Biomarkers - metabolism Child Child, Preschool Emery–Dreifuss muscular dystrophy Female Humans Immunohistochemistry Male Middle Aged Muscle biopsy Muscle, Skeletal Muscular Dystrophy, Emery-Dreifuss - metabolism Muscular Dystrophy, Emery-Dreifuss - pathology Neurology Nuclear envelope Nuclear Envelope - metabolism Nuclear envelope transmembrane protein Nuclear Proteins - metabolism Tissue Banks nuclear envelope nuclear envelope transmembrane protein muscle biopsy NET Emery-Dreifuss muscular dystrophy EDMD Emery–Dreifuss muscular dystrophy Nuclear envelope transmembrane protein Nuclear envelope Muscle biopsy
Online Access:	Get full text
Tags:	Add Tag No Tags, Be the first to tag this record!

Description
Summary:	Highlights • Altered distribution of EDMD-linked proteins is not a general disease characteristic • Tissue-specific proteins exhibit altered distributions in some EDMD patients • Variation in redistributed proteins in EDMD may underlie its clinical variability
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 These authors contributed equally to the work.
ISSN:	0960-8966 1873-2364
DOI:	10.1016/j.nmd.2016.12.003