myotonic dystrophy type 2

Summary
Definition
A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_material_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one.
Super Class
myotonic disease
External Links
Disease Ontology
DOID:0050759
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
Related Genes
Displaying entries 31 - 39 of 39 in total
Gene ID Gene Symbol Description Source
8809 IL18R1 interleukin 18 receptor 1
8972 MGAM maltase-glucoamylase
9514 GAL3ST1 galactose-3-O-sulfotransferase 1
10559 SLC35A1 solute carrier family 35 member A1
23236 PLCB1 phospholipase C beta 1
26033 ATRNL1 attractin like 1
81890 QTRT1 queuine tRNA-ribosyltransferase catalytic subunit 1
159371 SLC35G1 solute carrier family 35 member G1
283871 PGP phosphoglycolate phosphatase

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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