Genetic & Genomic MedicinemedRxivPreprint
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…·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.
DOI 10.1101/2024.10.04.24313542