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

Sieb, J P; Kraner, S; Schrank, B; Reitter, B; Goebel, T H; Tzartos, S J; Steinlein, O K

Sieb, J P; Kraner, S; Schrank, B; Reitter, B; Goebel, T H; Tzartos, S J; Steinlein, O K.

Afiliación

Sieb JP; Department of Neurology, University of Bonn, Germany.

Ann Neurol ; 48(3): 379-83, 2000 Sep.

Article en En | MEDLINE | ID: mdl-10976646

RESUMEN

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.

Asunto(s)

Homocigoto; Mutación/genética; Síndromes Miasténicos Congénitos/genética; Receptores Colinérgicos/genética; Adulto; Femenino; Haplotipos/genética; Humanos; Músculos/patología; Síndromes Miasténicos Congénitos/patología; Linaje

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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Receptores Colinérgicos / Síndromes Miasténicos Congénitos / Homocigoto / Mutación Límite: Adult / Female / Humans Idioma: En Revista: Ann Neurol Año: 2000 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Estados Unidos

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