A clinicopathological study and transthyretin (TTR) gene analysis were performed on two families with familial amyloid polyneuropathy (FAP) that had recently been found in Argentina. One family originated in Portugal and the other in France/Spain, Patients suffered from sensorimotor polyneuropathy with autonomic dysfunction, and the TTR gene abnormality (Val 30-->Met) was confirmed in both families. TTR-related FAP is more widely distributed than previously recognized.
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CHU Bicetre, Serv Neurol, F-94275 Le Kremlin Bicetre, France
Univ Paris 11, Ctr Reference Malad Rares NNERF Neuropathies Amyl, Hop Univ Paris Sud, AP HP, Paris, FranceCHU Bicetre, Serv Neurol, F-94275 Le Kremlin Bicetre, France
Adams, David
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Samuel, Didier
Slama, Michel
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机构:
CHU A Beclere, Serv Cardiol, F-92141 Clamart, France
Univ Paris 11, Ctr Reference Malad Rares NNERF Neuropathies Amyl, Hop Univ Paris Sud, AP HP, Paris, FranceCHU Bicetre, Serv Neurol, F-94275 Le Kremlin Bicetre, France