autosomal recessive limb-girdle muscular dystrophy type 2N

Summary
Synonym
  • LGMD2N
  • muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2
  • muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related
Definition
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3.
Super Class
autosomal recessive limb-girdle muscular dystrophy
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
29954 POMT2 protein O-mannosyltransferase 2
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q9UKY4 Protein O-mannosyl-transferase 2
The Human Phenotype Ontology
Displaying entries 1 - 10 of 24 in total
HPO ID HPO Term
HP:0003236 Elevated circulating creatine kinase concentration
HP:0011712 Right bundle branch block
HP:0002119 Ventriculomegaly
HP:0006785 Limb-girdle muscular dystrophy
HP:0001328 Specific learning disability
HP:0003691 Scapular winging
HP:0007126 Proximal amyotrophy
HP:0002355 Difficulty walking
HP:0001263 Global developmental delay
HP:0003551 Difficulty climbing stairs
Displaying 1 entry
Gene ID Gene Symbol Description
29954 POMT2 protein O-mannosyltransferase 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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