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MIRAGE
distal myopathy 4

Summary
Synonym
  • MPD4
  • distal ABD-filaminopathy
  • distal muscular dystrophy 4
  • distal myopathy with posterior leg and anterior hand involvement
Definition
A distal myopathy that has_material_basis_in heterozygous mutation in FLNC on 7q32.
Super Class
distal myopathy
Disease Ontology
DOID:0111190
ORDO
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2318 FLNC filamin C
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q14315 Filamin-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: December 8, 2025