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Article

First Korean family with a mutation in TPM2 associated with Sheldon-Hall syndrome.

Journal of Korean medical science - 1 May 2013

Ko Jung Min, Choi In-Ho, Baek Goo-Hyun, Kim Kee-Won

Abstract excerpt

Sheldon-Hall syndrome (SHS) is a rare autosomal dominant, inherited arthrogryposis syndrome characterized by multiple congenital contractures of the distal limbs. To date, four genes that encode the skeletal muscle fiber complex have been confirmed as the causative genes. Mutations in MYH3 have been identified most frequently and few cases of SHS caused by TPM2 mutations have been reported worldwide. This report...

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Source

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Identifiers

PMID: 23678273
DOI: 10.3346/jkms.2013.28.5.780
PMCID: PMC3653094

Genes

TPM2
MYH3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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