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congenital myopathy 22A
Summary
- Definition
- A congenital myopathy that is characterized by onset of muscle weakness in utero or soon after birth and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23. Biallelic mutation in the SCN4A gene also causes severe fetal congenital myopathy 22B.
- Super Class
- autosomal recessive disease congenital myopathy
External Links
- Disease Ontology
- DOID:0081354
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P35499 | Sodium channel protein type 4 subunit alpha |
