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congenital myopathy 18
Summary
- Definition
- A congenital myopathy that is characterized by the onset of symptoms of muscle weakness in early childhood, including in utero and infancy and that has_material_basis_in compound heterozygous or heterozygous mutation in the CACNA1S gene on chromosome 1q32.
- Super Class
- autosomal dominant disease autosomal recessive disease congenital myopathy
External Links
- Disease Ontology
- DOID:0081350
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q13698 | Voltage-dependent L-type calcium channel subunit alpha-1S |
