myofibrillar myopathy 1

Summary
Synonym
  • autosomal recessive limb-girdle muscular dystrophy type 2R
  • desminopathy
Definition
A myofibrillar myopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the desmin gene on chromosome 2q35.
Super Class
autosomal dominant disease autosomal recessive disease myofibrillar myopathy
External Links
Disease Ontology
DOID:0080092
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 50 in total
Gene ID Gene Symbol Description Source
43 ACHE acetylcholinesterase (Yt blood group)
142 PARP1 poly(ADP-ribose) polymerase 1
178 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
353 APRT adenine phosphoribosyltransferase
1119 CHKA choline kinase alpha
1120 CHKB choline kinase beta
1605 DAG1 dystroglycan 1
1634 DCN decorin
1636 ACE angiotensin I converting enzyme
1800 DPEP1 dipeptidase 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: August 19, 2024