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Article

TNNT1 nemaline myopathy: natural history and therapeutic frontier.

Human molecular genetics - 15 Sept 2018

Fox Michael D, Carson Vincent J, Feng Han-Zhong, Lawlor Michael W, Gray John T, Brigatti Karlla W, Jin J-P, Strauss Kevin A

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29931346
DOI: 10.1093/hmg/ddy233
PMCID: PMC6121192

Genes

TNNT1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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