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MIRAGE
Emery-Dreifuss muscular dystrophy

Summary
Synonym
  • EDMD
Definition
A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle.
Super Class
muscular dystrophy
Disease Ontology
DOID:11726
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
2010 EMD emerin
4000 LMNA lamin A/C
Displaying all 2 entries
Gene ID Gene Symbol Description Source
16905 Lmna lamin A
64009 Syne1 spectrin repeat containing, nuclear envelope 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
3771968 Msp300 Muscle-specific protein 300 kDa
Related Glycoprotein
Displaying all 2 entries
UniProt ID Protein Name Source
P02545 Prelamin-A/C
P50402 Emerin
Displaying all 2 entries
UniProt ID Protein Name Source
P48678 Prelamin-A/C
Q6ZWR6 Nesprin-1
Displaying 1 entry
UniProt ID Protein Name Source
M9MRD1 Muscle-specific protein 300 kDa
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International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 8, 2025