Genopathy
Gene-Disorder Association · Article
Gene
TNNT1
Troponin T1, Slow Skeletal Type
Disorder
Nemaline Myopathy
First reported 2003
Supporting publications 2
Key publication · gene–disorder Truncation by Glu180 nonsense mutation results in complete loss of slow skeletal muscle troponin T in a lethal nemaline myopathy.The Journal of biological chemistry · 2003
Key publication · disorder NEMALINE MYOPATHY. A NEW CONGENITAL MYOPATHY.Brain : a journal of neurology · 1963
Manually curated
Association Review

In brief

The association between TNNT1 (Troponin T1, Slow Skeletal Type) and Nemaline Myopathy is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 0
Compounds 0
Trials 0
Publications 2
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

1 source

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
TNNT1

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

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04
Nemaline Myopathy

The disorder

7 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Literature

Reading

2 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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06
Provenance

References & sources

5 references

Every source and publication cited across this dossier, as one numbered reference list.

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