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Article

Recognizable Pattern of Arthrogryposis and Congenital Myopathy Caused by the Recurrent TTN Metatranscript-only c.39974-11T > G Splice Variant.

Neuropediatrics - 1 Oct 2022

Averdunk Luisa, Donkervoort Sandra, Horn Denise, Waldmüller Stephan, Syeda Safoora, Neuhaus Sarah B, Chao Katherine R, van Riesen Anne, Gauck Darja, Haack Tobias, Japp Anna S, Lee Unaa, Bönnemann Carsten G, Mayatepek Ertan, Distelmaier Felix

Abstract excerpt

INTRODUCTION: Arthrogryposis is characterized by the presence of multiple contractures at birth and can be caused by pathogenic variants in TTN (Titin). Exons and variants that are not expressed in one of the three major isoforms of titin are referred to as "metatranscript-only" and have been considered to be only expressed during fetal development. Recently, the metatranscript-only variant (c.39974-11T > G) in...

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Identifiers

PMID: 35605965
DOI: 10.1055/a-1859-0800

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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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