A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1-Reference-Cited by-同舟云学术

A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1

Published:2023-02 Issue:2 Volume:33 Page:161-168
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Rodríguez Cruz Pedro M^ORCID,Ravenscroft Gianina,Natera Daniel,Carr Aisling,Manzur Adnan,Liu Wei Wei,Vella Norbert R,Jericó Ivonne,Gonzalez-Quereda Lidia,Gallano Pia,Montalto Simon Attard,Davis Mark R,Lamont Phillipa J,Laing Nigel G,Bourque Pierre,Nascimento Andres,Muntoni Francesco,Polavarapu Kiran,Lochmüller Hanns,Palace Jacqueline,Beeson David

Funder

Fundacion La Caixa

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

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4. Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor ɛ subunit;Ohno;Neuron,1996

5. A novel congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel conductance;Webster;Brain,2012

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