Clinical pathology and molecular genetics on familial amyloidotic polyneuropathy / 北京大学学报(医学版)

ABSTRACT

75%). Immunoglobulin ? and ? chains as well as TTR positive deposits were not demostrated in the accumulated amyloid material. There was neither TTR nor apolopoprotein A1 coding gene mutation detected in the proband and her son. Conclusion: The pathological findings demonstrated existence of a FAP. However, the immuno pathological and genetic results could not classified the type of this FAP family. Further genetic studies are required to identify it.