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Article

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

Gene - 25 Sept 2013

Li Xuefu, Jiang Miao, Han Weitian, Zhao Ning, Liu Wei, Sui Yu, Lu Yongping, Li Jianxin

Abstract excerpt

Distal arthrogryposes (DAs), a clinically and genetically heterogeneous group of disorders characterized by congenital contractures with predominant involvement of the hands and feet, can be classified into at least 12 different forms. These autosomal dominant disorders are of variable expressivity and reduced penetrance. Mutations in sarcomeric protein genes, including troponin I2 (TNNI2), troponin T3 (TNNT3),...

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Source

Identifiers

PMID: 23850728
DOI: 10.1016/j.gene.2013.06.082

Genes

TNNI2
MYH3
TNNT3
MYBPC1
TPM2

Variants

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.

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