Genotype--phenotype correlation in FAP.

Abstract excerpt

Familial Amyloidotic Polyneuropathy (FAP) was initially classified into different types based on the clinical presentation. FAP Type I included patients with predominant upper limb neuropathy, while Type II patients had initial lower limb involvement. Further confusing the issue was the description of FAP Types III and IV, which proved to result from proteins other than Transthyretin (TTR). More recently,...

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