autosomal dominant Emery-Dreifuss muscular dystrophy 2

Summary
Synonym
  • EDMD2
  • EMD2
  • Emery-Dreifuss muscular dystrophy 2, autosomal dominant
  • Emery-Dreifuss muscular dystrophy, autosomal dominant
  • Hauptmann-Thannhauser muscular dystrophy
  • autosomal dominant limb-girdle muscular dystrophy type 1B
  • muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant
  • scapuloilioperoneal atrophy with cardiopathy
Definition
An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22.
Super Class
Emery-Dreifuss muscular dystrophy autosomal dominant disease
External Links
Related Genes
Displaying entries 21 - 30 of 47 in total
Gene ID Gene Symbol Description Source
5373 PMM2 phosphomannomutase 2
5553 PRG2 proteoglycan 2, pro eosinophil major basic protein
6383 SDC2 syndecan 2
6476 SI sucrase-isomaltase
8813 DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic
8818 DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory
8867 SYNJ1 synaptojanin 1
8871 SYNJ2 synaptojanin 2
8972 MGAM maltase-glucoamylase
9215 LARGE1 LARGE xylosyl- and glucuronyltransferase 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: August 19, 2024