Whole Exome Sequencing Identified a Stop-Gained Mutation in DYSF Gene Associated With Dysferlinopathy in an Iranian Family.

ABSTRACT: Introduction: Muscular dystrophy (MD) refers to a group of hereditary disorders characterized by progressive muscle degeneration, often caused by a deficiency or insufficient levels of glycoproteins in muscle cell membranes. Mutations in various genes lead to different types of MD, each with distinct clinical manifestations and inheritance patterns. The genetic heterogeneity of MD complicates the identification of the causative genes. Materials and Methods: This research was conducted to identify the genetic basis of MD in an Iranian family with three affected members. Whole exome sequencing (WES) was performed on a proband who had initially been misdiagnosed with polymyositis. Following the identification of the disease-causing variant via WES, cosegregation analysis was car

SUBMITTER: Baghshomali S 

PROVIDER: S-EPMC12310322 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature