Metadata | |
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ID | DOID:0081354 |
Name | congenital myopathy 22A |
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/ |
Xrefs | |
Parent Relationships |
is_a congenital myopathy |