Work

Atypical Presentation of an LMNB1 Duplication Involving the Silencer Region

Year: 2025

Type: article

Abstract: Objectives: gene duplication, including the duplication of the silencer region. Methods: A patient who presented with muscle stiffness and constipation underwent comprehensive clinical and imaging evaluations, followed by next-generation whole-genome sequencing and optical genome mapping. In the subsequent year, the proband reported additional symptoms of muscle spasms, difficulty of relaxation of the anal sphincter, and stiffness in movements. Results: gene. Discussion: , which may contribute to the milder symptoms observed.

Source: Neurology Genetics

DOI: 10.1212/nxg.0000000000200261