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
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2218 FKTN fukutin
Related Glycoprotein
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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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025