Bonanno_2020_Neuromuscul.Disord__

Reference

Title : Severe congenital myasthenic syndrome associated with novel biallelic mutation of the CHRND gene - Bonanno_2020_Neuromuscul.Disord__
Author(s) : Bonanno C , Rodolico C , Topf A , Foti FM , Liu WW , Beeson D , Toscano A , Lochmuller H
Ref : Neuromuscular Disorders , : , 2020
Abstract :

Congenital myasthenic syndromes (CMS) are a group of inherited disorders caused by mutations in genes encoding proteins essential for neuromuscular transmission. CMS is characterized by fatigable muscle weakness with onset at birth or in early childhood; rarely, symptoms may present later. The most frequently involved proteins are choline acetyltransferase, the endplate species of acetylcholinesterase and the acetylcholine receptor subunits. Defects in the cholinergic receptor nicotinic delta subunit (CHRND) are a rare cause for CMS but they should be considered in patients with a severe, early onset disease, with respiratory distress. We describe two sisters, clinically and genetically diagnosed with CMS, carrying two heteroallelic variants in the CHRND gene: c.730C>T; p.(Arg244Cys) and c.1304T>C; p.(Leu435Pro). The first variant has already been described yet no clinical relevance has been proved; the second one, is a novel variant documented here for the first time. These two cases expand the clinical spectrum of CMS linked to CHRND mutations.

PubMedSearch : Bonanno_2020_Neuromuscul.Disord__
PubMedID: 32360402

Related information

Citations formats

Bonanno C, Rodolico C, Topf A, Foti FM, Liu WW, Beeson D, Toscano A, Lochmuller H (2020)
Severe congenital myasthenic syndrome associated with novel biallelic mutation of the CHRND gene
Neuromuscular Disorders :

Bonanno C, Rodolico C, Topf A, Foti FM, Liu WW, Beeson D, Toscano A, Lochmuller H (2020)
Neuromuscular Disorders :