distal myopathy 1

Summary
Synonym
  • Distal myopathy type 1
  • Gowers disease
  • Laing distal myopathy
  • Laing early-onset distal myopathy
  • MPD1
Definition
A distal myopathy that is characterized by autosomal dominant inheritance that has_material_basis_in mutation in the MYH7 gene on chromosome 14q11.2.
Super Class
autosomal dominant disease distal myopathy
Disease Ontology
DOID:0070197
Mondo Disease Ontology
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
4625 MYH7 myosin heavy chain 7
Displaying 1 entry
Gene ID Gene Symbol Description Source
140781 Myh7 myosin, heavy polypeptide 7, cardiac muscle, 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