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MIRAGE
congenital myopathy 22B

Summary
Definition
A congenital myopathy that is characterized by in utero onset of severe muscle weakness manifest as fetal akinesia and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23.
Super Class
autosomal recessive disease congenital myopathy
Disease Ontology
DOID:0081355
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
6329 SCN4A sodium voltage-gated channel alpha subunit 4
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P35499 Sodium channel protein type 4 subunit alpha
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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

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Last updated: April 6, 2026