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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS): 14-year update

Fig. 2

Regional distribution of genotype subgroups in symptomatic patients. The proportion of patients with each genotype shown by region in a the overall population of symptomatic patients and in patients with b predominantly cardiac, c predominantly neurologic, and d mixed phenotypes. The sum of values for each region in each figure equals one. Val30Met early onset and late onset n based on all patients with available data for disease diagnosis; 128 patients with the Val30Met mutation and no date of diagnosis were not included. Genotype categories of patients with no phenotype can be found in Additional file 2. Cardiac mutations include Val122Ile, Leu111Met, Thr60Ala, and Ile68Leu. ATTRwt amyloidosis = wild-type transthyretin amyloidosis

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