Amyloidosis, Hereditary, Transthyretin-Related
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Definition
- NIH MeSH on Amyloidosis, Hereditary, Transthyretin-Related
Amyloidosis, Hereditary, Transthyretin-Related:Hereditary disorder characterized by AMYLOID DEPOSITS in the EXTRACELLULAR MATRIX of different tissues. Patients present POLYNEUROPATHY; CARPAL TUNNEL SYNDROME, autonomic insufficiency, CARDIOMYOPATHY, and gastrointestinal symptoms. A dominant mutation (V30M) in the TTR gene has been identified. OMIM: 105210
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