[SMC] A novel case of compound heterozygous GFPT1 congenital myasthenic syndrome with a coexisting heterozygous DYSF mut
Posté : 17 janv. 2026 12:00
Neurol Sci. 2026 Jan 17;47(1):170. doi: 10.1007/s10072-025-08642-5.
NO ABSTRACT
PMID:41546777 | DOI:10.1007/s10072-025-08642-5
Source: https://pubmed.ncbi.nlm.nih.gov/4154677 ... t6+133c1fe