Genetic and clinical characteristics of hereditary transthyretin amyloidosis in endemic and non-endemic areas: experience from a single-referral center in Japan
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DOI: 10.1007/s00415-017-8640-7
Abstract: Hereditary transthyretin (ATTR) amyloidosis is a life-threatening, autosomal dominant, systemic amyloidosis caused by mutant transthyretin. In addition to ATTRV30M in endemic and non-endemic areas, more than 140 non-V30M mutations occur worldwide. The aim of this… read more here.
Keywords: attrv30m amyloidosis; non endemic; amyloidosis; non v30m ... See more keywords
Genetic and clinical features of hereditary transthyretin amyloidosis: a decade of experience at a Japanese referral center
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DOI: 10.1186/s13023-025-04006-6
Abstract: Hereditary transthyretin (ATTRv) amyloidosis is a rare, intractable genetic disorder caused by mutations in the transthyretin (TTR) gene. More than 150 TTR mutations have been identified, along with genotype-phenotype correlations. Early diagnosis is critical to… read more here.
Keywords: non v30m; v30m cases; endemic areas; genetic clinical ... See more keywords