Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis · 2002
Transthyretin mutation (TTRGly47Ala) associated with familial amyloid polyneuropathy in a French family.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Magy Nadine, Valleix Sophie, Grateau Gilles, Algros Marie-Paule, Guillemain Romain, Kantelip Bernadette, Delpech Marc, Dupond Jean-Louis
Аннотация
A French family in which three individuals had familial amyloid polyneuropathy (FAP) was investigated. The proband presented cardiomyopathy with atrial arrhythmia and then developed axonal polyneuropathy, carpal tunnel syndrome, and sclerodactyly. Nucleotide sequencing of exons 2, 3 and 4 of the transthyretin (TTR) gene revealed heterozygosity for a single base change in the second position of codon 47. This G to C transversion predicts replacement of a glycine by an alanine at position 47 in the mature protein. This mutation (G47A) was previously identified in two different families of Italian origin both of which had FAP and cardiomyopathy. Here we report the first identification of this mutation in a non-Italian family.