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MIRAGE
congenital muscular dystrophy due to LMNA mutation

Summary
Synonym
  • L-CMD
  • LMNA-related congenital muscular dystrophy
  • congenital muscular dystrophy LMNA-related
Definition
A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22.
Super Class
autosomal dominant disease congenital muscular dystrophy
Disease Ontology
DOID:0110640
ORDO
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
4000 LMNA lamin A/C
Displaying 1 entry
Gene ID Gene Symbol Description Source
16905 Lmna lamin A
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P02545 Prelamin-A/C
Displaying 1 entry
UniProt ID Protein Name Source
P48678 Prelamin-A/C
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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: April 7, 2025