ArticleHuman mutation2018
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant.
Article in Human mutation, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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
39 citing papers in PubMed, 1 synthesis or guideline pooled it, 63 citations in OpenAlex.
- Pediatric Nemaline Myopathy: A Systematic Review Using Individual Patient Data.Journal of child neurology · 2022Pooled it
- Integrated summary data-based Mendelian randomization and colocalization analysis reveals TNNT3 as a target of Deer-Antler-Ginseng-formula for triple-negative breast cancer.Discover oncology · 2025Article
- Expanding the spectrum ofJournal of neuromuscular diseases · 2025Article
- Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy.Neurology. Genetics · 2025Article
- Identification of a rare variant in TNNT3 responsible for familial dilated cardiomyopathy through whole-exome sequencing and in silico analysis.European journal of medical research · 2025Article
- Network-based anomaly detection algorithm reveals proteins with major roles in human tissues.GigaScience · 2025Article
- The EmergingHuman mutation · 2025Article
- Heterogenic Genetic Background of Distal Arthrogryposis-Review of the Literature and Case Report.Children (Basel, Switzerland) · 2024Review
- Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.Annals of clinical and translational neurology · 2024Article
- Role of the interaction between troponin T and AMP deaminase by zinc bridge in modulating muscle contraction and ammonia production.Molecular and cellular biochemistry · 2024Review
- Tirasemtiv enhances submaximal muscle tension in an Acta1:p.Asp286Gly mouse model of nemaline myopathy.The Journal of general physiology · 2024Article
- Clinico-pathological and gene features of 15 nemaline myopathy patients from a single Chinese neuromuscular center.Acta neurologica Belgica · 2024Article
- Characterization of a robust mouse model of heart failure with preserved ejection fraction.American journal of physiology. Heart and circulatory physiology · 2023Article
- NRAP reduction rescues sarcomere defects in nebulin-related nemaline myopathy.Human molecular genetics · 2023Article
- Clinical Manifestation of Nebulin-Associated Nemaline Myopathy.Neurology. Genetics · 2023Article
- Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization.International journal of molecular sciences · 2022Article
- Clinico-pathological features and mutational spectrum of 16 nemaline myopathy patients from a Chinese neuromuscular center.Acta neurologica Belgica · 2022Article
- Ethylmalonic encephalopathy masquerading as meningococcemia.Cold Spring Harbor molecular case studies · 2022Article
- Identification of Potential Biomarkers for Ryanodine Receptor 1 (RYR1) Mutation-Associated Myopathies Using Bioinformatics Approach.Disease markers · 2022Article
- Diagnostic work-up and phenotypic characteristics of a family with variable severity of distal arthrogryposis type 2B (Sheldon-Hall syndrome) and TNNT3 pathogenic variant.Frontiers in genetics · 2022Article
Corrections and comments
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Authors and funding
19 authors at 9 institutions in 3 countries.
Funding
Abstract
A male neonate presented with severe weakness, hypotonia, contractures and congenital scoliosis. Skeletal muscle specimens showed marked atrophy and degeneration of fast fibers with striking nemaline rods and hypertrophy of slow fibers that were ultrastructurally normal. A neuromuscular gene panel identified a homozygous essential splice variant in TNNT3 (chr11:1956150G > A, NM_006757.3:c.681+1G > A). TNNT3 encodes skeletal troponin-T
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.