Article
CHRNB1-associated congenital myasthenia syndrome: Expanding the clinical spectrum.
American journal of medical genetics. Part A - 1 Mar 2021
Freed Amanda S, Schwarz Anisha C, Brei Brianna K, Clowes Candadai Sarah V, Thies Jenny, Mah Jean K, Chabra Shilpi, Wang Leo, Innes A Micheil, Bennett James T
Abstract excerpt
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...
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