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Human Disease

congenital myopathy 22A

Term ID
DOID:0081354
Synonyms
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. https://pubmed.ncbi.nlm.nih.gov/26700687/
References
Ontology
Human Disease   ( DOID:0081354 )
Relationships
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Genes Involved
Zebrafish Models