Severe congenital myasthenic syndrome associated with novel biallelic mutation of the CHRND gene

Congenital myasthenic syndromes (CMS) are a group of heterogeneous inherited disorders caused by mutations in genes encoding proteins essential for the integrity of the neuromuscular transmission. Although clinical manifestations vary by subtype, CMS are usually characterized by fatigable muscle weakness (ocular, bulbar, limb muscles) with onset at birth or in early childhood; rarely, symptoms may present later. The main proteins involved in the pathogenesis of CMS are: choline acetyltransferase (ChAT), the endplate species of acetylcholinesterase (AChE), β2-laminin, the acetylcholine receptor subunits (CHRNA, CHRNB, CHRND, CHRNE), rapsyn, plectin, Na(v)1.4, the muscle specific protein kinase (MuSK), agrin, downstream of tyrosine kinase 7 (Dok-7), and glutamine-fructose-6-phosphate transaminase 1 (GFPT1) [1].

Source: Neuromuscular Disorders - February 23, 2020 Category: Neurology Authors: Carmen Bonanno, Carmelo Rodolico, Ana T öpf, Francesca Maria Foti, Wei-Wei Liu, David Beeson, Antonio Toscano, Hanns Lochmüller Tags: Case report Source Type: research