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Article

A novel mutation in TNNT3 associated with Sheldon-Hall syndrome in a Chinese family with vertical talus.

European journal of medical genetics - 1 Jan 2000

Zhao Ning, Jiang Miao, Han Weitian, Bian Chaoying, Li Xuefu, Huang Fang, Kong Qi, Li Jianxin

Abstract excerpt

Distal arthrogryposis (DA) is a group of rare, clinically and genetically heterogeneous disorders primarily characterized by congenital contractures of the limb joints. Recently, mutations in genes encoding the fast-twitch skeletal muscle contractile myofibers complex, including troponin I2 (TNNI2), troponin T3 (TNNT3), tropomyosine 2 (TPM2), and embryonic myosin heavy chain 3 (MYH3), and the slow-twitch skeletal...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21402185
DOI: 10.1016/j.ejmg.2011.03.002

Genes

TNNT3
MYBPC1
MYH3
TNNI2
TPM2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

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A novel mutation in TNNT3 associated with Sheldon-Hall syndrome in a Chinese family with vertical talus.PMID 21402185Read ↗

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

Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot.Semantic proximity Read ↗

A MYH3 mutation identified for the first time in a Chinese family with Sheldon-Hall syndrome (DA2B).Semantic proximity Read ↗

Sheldon-Hall syndrome.Semantic proximity Read ↗

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First Korean family with a mutation in TPM2 associated with Sheldon-Hall syndrome.Semantic proximity Read ↗

[Genetic analysis and prenatal diagnosis of a pregnant woman with Sheldon-Hall syndrome].Semantic proximity Read ↗

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

Clinical and Molecular Heterogeneity of MYH3-Related Arthrogryposis with a Novel MYH3 Variant.Semantic proximity Read ↗

De novo Mutations in NALCN Cause a Syndrome of Congenital Contractures of the Limbs and Face with Hypotonia, and Developmental DelaySemantic proximity Read ↗

Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome.Semantic proximity Read ↗

Identification of two novel MYH3 variants causing different phenotypes in prenatal diagnosis.Semantic proximity Read ↗

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