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Case Reports
First Spanish family with familial amyloidotic polyneuropathy associated to TTR Thr49Ile mutation.
- Maria João Saraiva, Miguel Munar-Qués, Pedro Modrego, Paul Moreira, and Carles Viader-Farré.
- Amyloid Unit, Instituto de Biologia Molecular e Celular, Rua do Campo Alegre, no. 823, Porto, Portugal. mjsaraiv@ibmc.up.pt
- Amyloid. 2003 Mar 1; 10 (1): 34-5.
AbstractWe present a Spanish patient with familial amyloidotic polyneuropathy associated with the TTR Thr49Ile mutation previously described in a Japanese patient. This is the first report in a Caucasian patient and the second in the literature. Age of onset at 66 and the clinical picture were similar to the Japanese patient: sensorimotor polyneuropathy, digestive autonomic disturbances, cardiomyopathy and loss of weight. The mutation was diagnosed by DNA sequencing and induced mutation restriction analysis.
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