congenital myopathy 9B

Term ID

DOID:0081344

Synonyms

• ongenital proximal myopathy 9B with minicore lesions

Definition

A congenital myopathy that is neonatal hypotonia followed by mildly delayed walking in childhood, mainly affecting proximal muscles, and that has_material_basis_in homozygous mutation in the FXR1 gene on chromosome 3q28. Biallelic mutation in the FXR1 gene also causes CMYP9A. https://pubmed.ncbi.nlm.nih.gov/30770808/

References

• MIM:618823

Ontology

Human Disease   ( DOID:0081344 )