Double pathogenic variant in an ATTRv patient with mixed phenotype-Reference-Cited by-同舟云学术

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Double pathogenic variant in an ATTRv patient with mixed phenotype

Published:2024-05-16 Issue:3 Volume:31 Page:238-240
ISSN:1350-6129
Container-title:Amyloid
language:en
Short-container-title:Amyloid

Author:

Sciarrone Maria Ausilia¹,Lillo Rosa²,Romano Angela¹,Vitali Francesca¹,Guglielmino Valeria³,Meucci Maria Chiara²,Graziani Francesca²,Luigetti Marco¹³

Affiliation:

1. UOC Neurologia, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy

2. UOC Cardiologia, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy

3. Dipartimento di Neuroscienze, Università Cattolica del Sacro Cuore. Sede di Roma, Italy

Publisher

Informa UK Limited

Link

https://www.tandfonline.com/doi/pdf/10.1080/13506129.2024.2346536

Reference10 articles.

1. Amyloid deposits in transthyretin-derived amyloidosis: cleaved transthyretin is associated with distinct amyloid morphology

Diagnosis and Treatment of Hereditary Transthyretin Amyloidosis (hATTR) Polyneuropathy: Current Perspectives on Improving Patient Care

3. Low Sensitivity of Bone Scintigraphy in Detecting Phe64Leu Mutation-Related Transthyretin Cardiac Amyloidosis

4. 99mTc-DPD uptake reflects amyloid fibril composition in hereditary transthyretin amyloidosis

5. Identification of a novel transthyretin Thr59Lys/Arg104His. A case of compound heterozygosity in a Chinese patient diagnosed with familial transthyretin amyloidosis

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