ArticleCureus2022
A Rare Case of I127V Heterozygous Transthyretin Amyloidosis With Atypical Transthoracic Echocardiogram Findings Presenting As Upper Extremity Sensorimotor Polyneuropathy.
Article in Cureus, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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4 authors at 1 institution in 1 country.
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Abstract
Hereditary transthyretin amyloidosis (hATTR) is a class of disorders with various systemic clinical manifestations, most often cardiac and neurologic in origin. The I127V mutation is a known but uncommon type of hATTR that typically affects males in their sixth or seventh decade of life. We present a case of this rare genetic variant with an atypical presentation of upper, followed by lower extremity sensorimotor polyneuropathy, with an uncharacteristic transthoracic echocardiogram (TTE) pattern but strongly positive pyrophosphate (PYP) scan, confirming the amyloidosis (AL) diagnosis.
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