Article
Transthyretin mutation (TTRGly47Ala) associated with familial amyloid polyneuropathy in a French family.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis - 1 Dec 2002
Magy Nadine, Valleix Sophie, Grateau Gilles, Algros Marie-Paule, Guillemain Romain, Kantelip Bernadette, Delpech Marc, Dupond Jean-Louis
Abstract excerpt
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...
Topics
- Adult
- Alanine
- Amyloid Neuropathies
- Amyloidosis, Familial
- Female
- France
- Glycine
- Humans
- Male
- Middle Aged
- Mutation
- Pedigree
- Prealbumin
- Sequence Analysis, DNA