Term Name:	congenital myopathy 22A
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.
Ontology:	Human Disease [DOID:0081354]   ( DOID:0081354 )