Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Deficiency of slow skeletal muscle troponin T causes atrophy of type I slow fibres and decreases tolerance to fatigue

21 Jan 2014

Abstract excerpt

Key points Loss of slow skeletal muscle troponin T (ssTnT) due to a nonsense mutation in codon Glu180 causes a lethal form of recessively inherited nemaline myopathy. We studied the phenotypes of partial and total loss of ssTnT in the diaphragm and soleus muscles of Tnnt1 gene targeted mice. ssTnT deficiency resulted in significant decreases in other slow fibre‐specific myofilament proteins whereas fast...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cardiomyopathy and Myosin Studies
Share to Cardiovascular Effects of Exercise
Share to Muscle Physiology and Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 24445317
DOI: 10.1113/jphysiol.2013.268177

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Deficiency of slow skeletal muscle troponin T causes atrophy of type I slow fibres and decreases tolerance to fatiguePMID 24445317Read ↗

Truncation by Glu180 nonsense mutation results in complete loss of slow skeletal muscle troponin T in a lethal nemaline myopathy.Semantic proximity Read ↗

Pathogenic TNNT1 variants are associated with aberrant thin filament compliance and myofibre hyper-contractility.Semantic proximity Read ↗

A homozygous single-nucleotide variant in TNNT1 causes abnormal troponin T isoform expression in a patient with severe nemaline myopathy: A case report.Semantic proximity Read ↗

TNNT1 nemaline myopathy: natural history and therapeutic frontier.Semantic proximity Read ↗

Cellular Fate of Truncated Slow Skeletal Muscle Troponin T Produced by Glu180 Nonsense Mutation in Amish Nemaline MyopathySemantic proximity Read ↗

Thin filament proteins mutations associated with skeletal myopathies: defective regulation of muscle contraction.Semantic proximity Read ↗

Functional Basis of Three New Recessive Mutations of Slow Skeletal Muscle Troponin T Found in Non-Amish TNNT1 Nemaline Myopathies.Semantic proximity Read ↗

Sarcomere Dysfunction in Nemaline MyopathySemantic proximity Read ↗

Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy.Semantic proximity Read ↗

Role of troponin T in disease.Semantic proximity Read ↗

Distinct underlying mechanisms of limb and respiratory muscle fiber weaknesses in nemaline myopathy.Semantic proximity Read ↗

Skeletal muscle repair in a mouse model of nemaline myopathySemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.