congenital muscular dystrophy due to LMNA mutation

Summary
Synonym
  • L-CMD
  • LMNA-related congenital muscular dystrophy
  • congenital muscular dystrophy LMNA-related
Definition
A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22.
Super Class
autosomal dominant disease congenital muscular dystrophy
External Links
Disease Ontology
DOID:0110640
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 18 in total
Gene ID Gene Symbol Description Source
31 ACACA acetyl-CoA carboxylase alpha
43 ACHE acetylcholinesterase (Yt blood group)
217 ALDH2 aldehyde dehydrogenase 2 family member
952 CD38 CD38 molecule
1120 CHKB choline kinase beta
1272 CNTN1 contactin 1
2218 FKTN fukutin
2632 GBE1 1,4-alpha-glucan branching enzyme 1
3098 HK1 hexokinase 1
4534 MTM1 myotubularin 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