Hereditary amyloidosis with early and prominent peripheral nerve involvement is often designated familial amyloid polyneuropathy (FAP). The abnormality usually lies in the transthyretin (TTR) gene. We describe a patient with a tyr77 TTR gene mutation who presented with sensorimotor polyneuropathy bu
Familial amyloid polyneuropathy: A clinico-pathologic study
✍ Scribed by Gérard Said; Violaine Planté-Bordeneuve
- Book ID
- 119303411
- Publisher
- Elsevier Science
- Year
- 2009
- Tongue
- English
- Weight
- 531 KB
- Volume
- 284
- Category
- Article
- ISSN
- 0022-510X
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More than 40 point mutations (producing different clinical manifestations) have been described in diverse points of the plasma protein transthyretin (TTR). The Met30 is considered the most common mutation, the Tyr77 mutation being the second most prevalent. However, data from patients with this late
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