Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions
Lydia Sagath, K. Kiiski, Kireshnee Naidu, Krutik Patel, Per Harald Jonson, Milla M. Laarne, Djurdja Djordjevic, Grace Yoon, Anna LaGroon, Curtis R. Rogers, Maureen Kelly Galindo, Katalin H. Scherer, Erdmute Kunstmann, Erkan Koparir, Desirée Ho, , Vilma‐Lotta Lehtokari
The paper identifies structural variants in the NEB gene across 35 families, showing large deletions cause dominant distal myopathy while recessive variants show no severity correlation.
medRxiv · Oct 4, 2024 · PreprintGenetic & Genomic Medicine