PMID: 9159604Apr 1, 1997Paper

Familial amyloidosis in one Chinese family: clinical, immunological, and molecular genetic analysis

Journal of Internal Medicine
C T ChouD R Jacobson

Abstract

Three members of a Taiwanese kindred developed severe, systemic, early onset (< age 25 years), biopsy-proven amyloidosis. Clinical features included upper and lower extremity sensorimotor neuropathy, abdominal pain, vomiting, corneal ulcerations, cardiomyopathy, and syncope. Immunohistochemical analysis indicated that the deposits consisted of transthyretin. Molecular genetic studies revealed a heterozygous codon 55 point mutation, resulting in a proline for leucine-substitution, a mutation previously associated with aggressive familial amyloidosis in a US kindred of Dutch and German descent. The clinical courses and echocardiographic findings are typical for many types of amyloidosis; the pathologic data and genetic studies were necessary to establish a precise diagnosis.

Citations

Mar 8, 2014·Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis·Jie YinNong Tian
Nov 20, 2016·Journal of the Peripheral Nervous System : JPNS·Gonglu LiuZhiying Wu
Oct 31, 2007·Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis·Chloe M MakSidney Tam
Aug 28, 2019·Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society·Jose-Alberto PalmaHoracio Kaufmann

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