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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

MIM:620351

Parent Relationships

is_a congenital myopathy

is_a autosomal recessive disease

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