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Milla Laarne

ORCID: 0000-0001-5690-4779
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Contact & Profiles
A5107742530
Research Areas
  • Genomics and Rare Diseases
  • Microtubule and mitosis dynamics
  • Cardiomyopathy and Myosin Studies
 Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions
OPENALEX - Publications 
Lydia Sagath K. Kiiski K. Satyam Naidu Krutik Patel Per Harald Jonson and 26 more Milla Laarne Djurdja Djordjevic Grace Yoon Anna LaGroon Curtis Rogers Maureen Kelly Galindo Katalin Scherer Erdmute Kunstmann Erkan Koparir D D Ho Mark R. Davis Purwa Joshi A. Zygmunt Rotem Orbach Sandra Donkervoort Carsten G. Bönnemann Marco Savarese Andoni Echaniz‐Laguna Valérie Biancalana Casie A. Genetti Susan T. Iannaccone Alan H. Beggs Carina Wallgren‐Pettersson Franclo Henning Katarina Pelin Vilma‐Lotta Lehtokari

Abstract Introduction Structural variants (SVs) of the nebulin gene ( NEB ), including intragenic duplications, deletions, and copy number variation triplicate region, are an established cause recessively inherited nemaline myopathies related neuromuscular disorders. Large deletions have been shown to dominantly distal myopathies. Here we provide overview 35 families with muscle disorders caused by such SVs in . Methods Using custom Comparative Genomic Hybridization arrays, exome sequencing,...

10.1101/2024.10.04.24313542 preprint EN cc-by-nc-nd medRxiv (Cold Spring Harbor Laboratory) 2024-10-04
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