Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain.

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

Who cites it

11 citing papers in PubMed, 28 citations in OpenAlex.

1. Heliyon · 2024
   Article
2. Making sense of missense variants in TTN-related congenital myopathies.Acta neuropathologica · 2021
   Article
3. The Axial Alignment of Titin on the Muscle Thick Filament Supports Its Role as a Molecular Ruler.Journal of molecular biology · 2020
   Article
4. Diaphragm contractile weakness due to reduced mechanical loading: role of titin.American journal of physiology. Cell physiology · 2019
   Review
5. Thick Filament Protein Network, Functions, and Disease Association.Comprehensive Physiology · 2018
   Review
6. Increasing Role of Titin Mutations in Neuromuscular Disorders.Journal of neuromuscular diseases · 2016
   Review
7. Mechanotransduction in cardiac hypertrophy and failure.Circulation research · 2015
   Review
8. Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain.Brain : a journal of neurology · 2014
   Article
9. Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain.Brain : a journal of neurology · 2014
   Article
10. Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain.Brain : a journal of neurology · 2014
    Article
11. A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure.Neuromuscular disorders : NMD · 2014
    Article

Corrections and comments

• Commented on by
  Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain.2014
• Commented on by
  Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain.2014
• Comment on
  Titin mutation segregates with hereditary myopathy with early respiratory failure.2012

Authors and funding

4 authors at 3 institutions in 1 country.

Funding

No grant is acknowledged in the PubMed record.

Abstract

PubMed holds no abstract for this paper.

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