Article
[Late-onset hereditary transthyretin amyloidosis with polyneuropathy. Report of one case].
Revista medica de Chile - 1 Sept 2022
Matamala José Manuel, Peña Camila, Moreno-Roco Javier, Álvarez Jaime, Villegas Pablo, Stuardo Andres, Puga Bárbara, Valjalo Ricardo, Correa Gonzalo, Jeraldo Cecilia, Méndez Gonzalo, Larrondo Jorge, Gosch Marianne, Carrasco Rodrigo
Abstract excerpt
Hereditary transthyretin amyloidosis is a multisystemic autosomal dominant genetic disorder characterized by progressive distal sensory-motor polyneuropathy or restrictive cardiomyopathy, secondary to amyloid deposits. Its pathogenesis lies in the TTR gene mutation, and the Val50Met mutation is the most frequent. Patients have significant differences in the onset and severity of clinical presentation according to...
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