Original paper

TNNT1 nemaline myopathy: natural history and therapeutic frontier

Volume: 27, Issue: 18, Pages: 3272 - 3282
Published: Jun 20, 2018
Abstract
We describe the natural history of 'Amish' nemaline myopathy (ANM), an infantile-onset, lethal disease linked to a pathogenic c.505G>T nonsense mutation of TNNT1, which encodes the slow fiber isoform of troponin T (TNNT1; a.k.a. TnT). The TNNT1 c.505G>T allele has a carrier frequency of 6.5% within Old Order Amish settlements of North America. We collected natural history data for 106 ANM patients born between 1923 and 2017. Over the last two...
Paper Details
Title
TNNT1 nemaline myopathy: natural history and therapeutic frontier
Published Date
Jun 20, 2018
Volume
27
Issue
18
Pages
3272 - 3282
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