Dupuy O, Blétry O, Blanc A S, Droz D, Viémont M, Delpech M, Grateau G
Laboratoire de Biochimie Génétique, Hôpital Cochin, Paris, France.
Amyloid. 1998 Dec;5(4):285-7. doi: 10.3109/13506129809007302.
A sixty-three year old French man presented with isolated late-onset amyloid cardiomyopathy proven by endomyocardial biopsy. There was no known family history of amyloidosis. Immunohistochemistry of cardiac deposits suggested that amyloi fibrils were derived from transthyretin. DNA sequencing revealed a point mutation in exon 2 of the transthyretin gene responsible for a novel amyloidogenic variant Asp42.
一名63岁的法国男子因经心内膜心肌活检证实的孤立性迟发性淀粉样心肌病前来就诊。其家族中无已知的淀粉样变性病史。心脏沉积物的免疫组织化学检查表明，淀粉样原纤维源自转甲状腺素蛋白。DNA测序显示转甲状腺素蛋白基因第2外显子存在一个点突变，该突变导致了一种新的致淀粉样变变体Asp42。
