congenital myopathy 22B

Term ID

DOID:0081355

Synonyms

Definition

A congenital myopathy that is characterized by in utero onset of severe muscle weakness manifest as fetal akinesia and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23. https://pubmed.ncbi.nlm.nih.gov/26700687/

References

• OMIM:620369

Ontology

Human Disease   ( DOID:0081355 )