https://pubmed.ncbi.nlm.nih.gov/23768946/
Compound heterozygous mutations of the TNXB gene cause primary myopathy
Complete deficiency of the extracellular matrix glycoprotein tenascin-X (TNX) leads to recessive forms of Ehlers-Danlos syndrome, clinically characterized by...
of thecompoundheterozygousmutationsgene
https://medlineplus.gov/genetics/gene/tnxb/
TNXB gene: MedlinePlus Genetics
The TNXB gene provides instructions for making a protein called tenascin-X. Learn about this gene and related health conditions.
genemedlineplus