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Article

Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes.

American journal of human genetics - 1 Mar 2003

Sung Sandy S, Brassington Anna-Marie E, Grannatt Kathryn, Rutherford Ann, Whitby Frank G, Krakowiak Patrycja A, Jorde Lynn B, Carey John C, Bamshad Mike

Abstract excerpt

The distal arthrogryposes (DAs) are a group of disorders characterized by multiple congenital contractures of the limbs. We previously mapped a locus for DA type 2B (DA2B), the most common of the DAs, to chromosome 11. We now report that DA2B is caused by mutations in TNNI2 that are predicted to disrupt the carboxy-terminal domain of an isoform of troponin I (TnI) specific to the troponin-tropomyosin (Tc-Tm)...

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Share to Arthrogryposis
Share to Chromosomes, Human, Pair 11

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Muscle Fibers, Fast-Twitch

Share to Muscle Proteins

Share to Sequence Alignment

Share to Sequence Homology, Amino Acid

Share to Tropomyosin

Share to Troponin

Source

Open in PubMed Open full text

Identifiers

PMID: 12592607
DOI: 10.1086/368294
PMCID: PMC1180243

Genes

TNNI2
TPM2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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