https://www.selleckchem.com/pr....oducts/AZD2281(Olapa
ion, including increasing use of long-acting injectable medications.CHRNB1 encodes the β subunit of the acetylcholine receptor (AChR) at the neuromuscular junction. Inherited defects in the neuromuscular junction can lead to congenital myasthenia syndrome (CMS), a clinically and genetically heterogeneous group of disorders which includes fetal akinesia deformation sequence (FADS) on the severe end of the spectrum. Here, we report two unrelated families with biallelic CHRNB1 variants, and in each family, one child presented wit
Gefällt mir
Kommentar
Teilen
