X-linked Emery-Dreifuss muscular dystrophy 6

Summary
Synonym
  • EDMD6
  • Emery-Dreifuss muscular dystrophy 6, X-linked
  • XMPMA
  • myopathy, X-linked, with postural muscle atrophy
Definition
An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of the FHL1 gene on chromosome Xq26.3.
Super Class
Emery-Dreifuss muscular dystrophy X-linked recessive disease
Disease Ontology
DOID:0070251
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2273 FHL1 four and a half LIM domains 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: December 9, 2024