Defining the Clinical Spectrum of Rare Disorders
Hereditary transthyretin-related amyloidosis is frequent in polyneuropathy and cardiomyopathy of no obvious etiology
Many rare disorders, despite being considered syndromic, may manifest with only a single clinical symptom. A CENTOGENE-led epidemiological clinical study provided impressive evidence for the relevance of this phenomenon in hereditary TTR-related amyloidosis. The study’s results were published in Annals of Medicine.