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

Conclusion The recurrent TTN c.39974–11T > G variant consistently causes congenital arthrogryposis and persisting myopathy providing evidence that the metatranscript-only 213 to 217 exons impact muscle elasticity during early development and beyond. There is a recognizable pattern of muscle involvement, which is distinct from other myopathies and provides valuable clues for diagnostic work-up. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text

Source: Neuropediatrics - October 2, 2022 Category: Neurology Authors: Averdunk, Luisa Donkervoort, Sandra Horn, Denise Waldm üller, Stephan Syeda, Safoora Neuhaus, Sarah B. Chao, Katherine R van Riesen, Anne Gauck, Darja Haack, Tobias Japp, Anna S. Lee, Unaa B önnemann, Carsten G. Mayatepek, Ertan Distelmaier, Felix Tags: Original Article Source Type: research