Severe congenital myasthenic syndrome due to homozygosity of the 1293insG epsilon-acetylcholine receptor subunit mutation

Autor:	J P, Sieb, S, Kraner, B, Schrank, B, Reitter, T H, Goebel, S J, Tzartos, O K, Steinlein
Rok vydání:	2000
Předmět:	Adult Myasthenic Syndromes Congenital Haplotypes Muscles Homozygote Mutation Humans Female Receptors Cholinergic Pedigree
Zdroj:	Annals of neurology. 48(3)
ISSN:	0364-5134
Popis:	Recently, a congenital myasthenic syndrome (CMS) with end-plate acetylcholine receptor (AChR) deficiency due to missense mutations in the genes for the AChR subunit was described. The first observed patient with this CMS was heteroallelic for the two epsilon-AChR subunit mutations epsilon1101insT and epsilon1293insG. This patient had only a moderate phenotype with mild muscle weakness and abnormal fatigue. We have now found homozygosity for the epsilon1293insG mutation in a severely affected CMS patient, who lost the ability to walk in midchildhood and shows profound weakness and muscle wasting. Our observation allows a genotype-phenotype correlation illustrating how differences in the AChR mutation haplotype can profoundly influence disease severity.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::15fd461fbacbc4b48b134d4868a59f13 https://pubmed.ncbi.nlm.nih.gov/10976646 Zobrazit plný text záznamu Plný text