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

A mutation in the fast skeletal muscle troponin I gene causes myopathy and distal arthrogryposis.

Neurology - 22 Aug 2006

Kimber E, Tajsharghi H, Kroksmark A-K, Oldfors A, Tulinius M

Abstract excerpt

OBJECTIVE: To describe a three-generation family with distal arthrogryposis associated with myopathy and caused by a mutation in the gene encoding for sarcomeric thin filament protein troponin I, TNNI2. METHODS: The authors performed clinical investigations and reviewed medical records. Muscle biopsy specimens were obtained for morphologic analysis. Genomic DNA was extracted from blood and analyzed for mutations...

Read the complete abstract on PubMed

Topics

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

Share to Arthrogryposis
Share to Distal Myopathies
Share to Muscle Fibers, Fast-Twitch

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscle, Skeletal

Share to Protein Isoforms

Share to Risk Assessment

Share to Sweden

Share to Troponin I

Source

Identifiers

PMID: 16924011
DOI: 10.1212/01.wnl.0000230168.05328.f4

Genes

TNNI2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A mutation in the fast skeletal muscle troponin I gene causes myopathy and distal arthrogryposis.PMID 16924011Read ↗

Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle diseaseSemantic proximity Read ↗

Spectrum of mutations that cause distal arthrogryposis types 1 and 2BSemantic proximity Read ↗

Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes.Semantic proximity Read ↗

Distal arthrogryposis: clinical and genetic findingsSemantic proximity Read ↗

Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variantSemantic proximity Read ↗

A new distal arthrogryposis syndrome characterized by plantar flexion contractures.Semantic proximity Read ↗

Identification of a novel pathogenic mutation of the MYH3 gene in a family with distal arthrogryposis type 2B.Semantic proximity Read ↗

Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.Semantic proximity Read ↗

Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype.Semantic proximity Read ↗

Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene.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 ↗

A novel TNNI2 mutation causes Freeman-Sheldon syndrome in a Chinese family with an affected adult with only facial contractures.Semantic proximity Read ↗

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