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
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
2316 FLNA filamin A
2317 FLNB filamin B
2318 FLNC filamin C
Displaying all 2 entries
Gene ID Gene Symbol Description Source
68794 Flnc filamin C, gamma
286940 Flnb filamin, beta

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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: December 9, 2024