congenital myopathy 22A (DOID:0081354)
Alliance: disease page
Alt IDs: OMIM:620351
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.