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Severe congenital myasthenic syndrome due to homozygosity of the 1293insG ε‐acetylcholine receptor subunit mutation
Author(s) -
Sieb J. P.,
Kraner S.,
Schrank B.,
Reitter B.,
Goebel T. H. H.,
Tzartos S. J.,
Steinlein O. K.
Publication year - 2000
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/1531-8249(200009)48:3<379::aid-ana14>3.0.co;2-o
Subject(s) - congenital myasthenic syndrome , missense mutation , acetylcholine receptor , wasting , mutation , phenotype , weakness , genetics , muscle weakness , haplotype , mutation testing , medicine , biology , myasthenia gravis , endocrinology , genotype , receptor , gene , anatomy
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 ε‐AChR subunit mutations ε1101insT and ε1293insG. This patient had only a moderate phenotype with mild muscle weakness and abnormal fatigue. We have now found homozygosity for the ε1293insG 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. Ann Neurol 2000;48:379–383