Haagsma E B, Scheffer H, Altland K, De Jager A E, Hazenberg B P
Department of Gastroenterology and Hepatology, University Hospital, Groningen, The Netherlands.
Amyloid. 2000 Sep;7(3):218-21. doi: 10.3109/13506120009146837.
A Dutch family with familial amyloidotic polyneuropathy associated with the transthyretin mutation Val71Ala is described. This is the third reported family with this mutation, causing at the protein level an unstable TTR monomer and at the clinical level progressive wasting, polyneuropathy, autonomic dysfunction and vitreous opacities.
本文描述了一个患有与转甲状腺素蛋白Val71Ala突变相关的家族性淀粉样多神经病的荷兰家庭。这是第三个报道的具有该突变的家族，该突变在蛋白质水平导致不稳定的转甲状腺素蛋白单体，在临床水平导致进行性消瘦、多神经病、自主神经功能障碍和玻璃体混浊。
