autosomal recessive limb-girdle muscular dystrophy type 2G

Summary
Synonym
  • LGMD2G
  • limb-girdle muscular dystrophy due to telethonin deficiency
  • muscular dystrophy, limb-girdle, type 2G
Definition
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding telethonin (TCAP).
Super Class
autosomal recessive limb-girdle muscular dystrophy
External Links
Disease Ontology
DOID:0110281
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 31 - 40 of 65 in total
Gene ID Gene Symbol Description Source
5563 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2
5837 PYGM glycogen phosphorylase, muscle associated
6383 SDC2 syndecan 2
6476 SI sucrase-isomaltase
6484 ST3GAL4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4
6519 SLC3A1 solute carrier family 3 member 1
8813 DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic
8818 DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory
8867 SYNJ1 synaptojanin 1
8871 SYNJ2 synaptojanin 2

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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