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 11 - 20 of 65 in total
Gene ID Gene Symbol Description Source
1120 CHKB choline kinase beta
1497 CTNS cystinosin, lysosomal cystine transporter
1605 DAG1 dystroglycan 1
1634 DCN decorin
1636 ACE angiotensin I converting enzyme
1800 DPEP1 dipeptidase 1
2023 ENO1 enolase 1
2218 FKTN fukutin
2548 GAA alpha glucosidase
2710 GK glycerol kinase
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 1 - 10 of 20 in total
HPO ID HPO Term
HP:0002359 Frequent falls
HP:0003701 Proximal muscle weakness
HP:0001265 Hyporeflexia
HP:0011727 Peroneal muscle weakness
HP:0003391 Gowers sign
HP:0000767 Pectus excavatum
HP:0003593 Infantile onset
HP:0001371 Flexion contracture
HP:0008981 Calf muscle hypertrophy
HP:0003307 Hyperlordosis
Displaying 1 entry
Gene ID Gene Symbol Description
2218 FKTN fukutin

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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