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Article

The functional and structural evaluation of small fibers in asymptomatic carriers of TTR p.Val50Met (Val30Met) mutation.

Neuromuscular disorders : NMD - 1 Jan 2022

Bekircan-Kurt Can Ebru, Yilmaz Ezgi, Arslan Doruk, Yildiz Fatma Gokcem, Dikmetas Özlem, Ergul-Ulger Zeynep, Kocabeyoglu Sibel, Irkec Murat, Hekimsoy Vedat, Tokgozoglu Lale, Tan Ersin, Erdem-Ozdamar Sevim

Abstract excerpt

Therapeutic advances in hereditary amyloid transthyretin (ATTRv) amyloidosis with polyneuropathy extended life expectancy and delayed symptom progression especially in patients with early disease. Thus, detection and monitoring of asymptomatic carriers gained importance. However, there is still limited consensus on genetic screening of ATTRv-polyneuropathy patients' family members and diagnostic tests that must...

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PMID: 34980537
DOI: 10.1016/j.nmd.2021.11.013

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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