congenital myopathy 22A

Term ID

DOID:0081354

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. https://pubmed.ncbi.nlm.nih.gov/26700687/

References

• OMIM:620351

Ontology

Human Disease   ( DOID:0081354 )