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 31 - 40 of 47 in total
Gene ID Gene Symbol Description Source
10329 RXYLT1 ribitol xylosyltransferase 1
10585 POMT1 protein O-mannosyltransferase 1
11041 B4GAT1 beta-1,4-glucuronyltransferase 1
27306 HPGDS hematopoietic prostaglandin D synthase
29925 GMPPB GDP-mannose pyrophosphorylase B
29954 POMT2 protein O-mannosyltransferase 2
51763 INPP5K inositol polyphosphate-5-phosphatase K
54344 DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory
55624 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
56983 POGLUT1 protein O-glucosyltransferase 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