Native American myopathy

Term ID

DOID:0060346

Synonyms

• Bailey-Bloch congenital myopathy
• congenital myopathy 13

Definition

A congenital myopathy that is characterized by congenital weakness, arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kykphoscoliosis, talipes deformities and susceptibility to malignant hyperthermia provoked by anesthesia and that has_material_basis_in homozygous mutation in the STAC3 gene on chromosome 12q13. https://www.ncbi.nlm.nih.gov/pubmed/18553514

References

• GARD:8432
• MESH:C538343
• OMIM:255995
• ORDO:168572
• SNOMEDCT_US_2023_03_01:723439002
• UMLS_CUI:C1850625

Ontology

Human Disease   ( DOID:0060346 )