autosomal recessive limb-girdle muscular dystrophy type 2M

Summary
Synonym
  • LGMD2M
  • MDDGC4
  • muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4
Definition
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin (FKTN) on chromosome 9q31.
Super Class
autosomal recessive limb-girdle muscular dystrophy
External Links
Related Genes
Displaying entries 21 - 30 of 65 in total
Gene ID Gene Symbol Description Source
2720 GLB1 galactosidase beta 1
3339 HSPG2 heparan sulfate proteoglycan 2
3418 IDH2 isocitrate dehydrogenase (NADP(+)) 2
3612 IMPA1 inositol monophosphatase 1
3633 INPP5B inositol polyphosphate-5-phosphatase B
3958 LGALS3 galectin 3
4153 MBL2 mannose binding lectin 2
5286 PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha
5373 PMM2 phosphomannomutase 2
5553 PRG2 proteoglycan 2, pro eosinophil major basic protein
Displaying 1 entry
Gene ID Gene Symbol Description Source
246179 Fktn fukutin
Displaying 1 entry
Gene ID Gene Symbol Description Source
362520 Fktn fukutin
Displaying 1 entry
Gene ID Gene Symbol Description Source
100006345 fktn fukutin
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
495324 fktn.S fukutin S homeolog Xenopus laevis (African clawed frog)
100124956 fktn fukutin Xenopus tropicalis (tropical clawed frog)
Displaying all 3 entries
Gene ID Gene Symbol Description Source
173469 T07D3.4 Fukutin;Nucleotidyltransferase family protein
188207 T07A5.1 Uncharacterized protein
189104 W02B3.4 Uncharacterized protein
The Human Phenotype Ontology
Displaying entries 11 - 20 of 20 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0003560 Muscular dystrophy
HP:0001270 Motor delay
HP:0003712 Skeletal muscle hypertrophy
HP:0003236 Elevated circulating creatine kinase concentration
HP:0009060 Scapular muscle atrophy
HP:0001762 Talipes equinovarus
HP:0003676 Progressive
HP:0001252 Hypotonia
HP:0003323 Progressive muscle weakness
Displaying 1 entry
Gene ID Gene Symbol Description
2218 FKTN fukutin

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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