Angeles M. Mori

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BACKGROUND We report on a novel mutation (S270T) in the M2 domain of the GLRA1 (alpha subunit of the glycine receptor) gene causing autosomal dominant hyperekplexia in a neonate, the mother and maternal uncle. All affected members showed the typical clinical features of the disorder. This novel S270T (T1188A) mutation is located in the boundary of the(More)
Background: We report on a novel mutation (S270T) in the M2 domain of the GLRA1 (α subunit of the glycine receptor) gene causing autosomal dominant hyperekplexia in a neonate, the mother and maternal uncle. All affected members showed the typical clinical features of the disorder. This novel S270T (T1188A) mutation is located in the boundary of the(More)
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