rippling muscle disease 2

Summary
Synonym
  • autosomal dominant limb-girdle muscular dystrophy type 1C
Definition
A muscle tissue disease characterized by mechanically triggered contractions of skeletal muscle and that has_material_basis_in mutation in the caveolin-3 gene (CAV3) on chromosome 3p25.
Super Class
autosomal dominant disease muscle tissue disease
External Links
Disease Ontology
DOID:0060255
Mondo Disease Ontology
UMLS
ORDO
OMIM
GARD
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