Visualize Submit Comment

Metadata
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
Synonyms	classic congenital myopathy 22A [EXACT]
Parent Relationships	is_a congenital myopathy is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance