Case report: Homozygous variants of NEB and KLHL40 in two Arab patients with nemaline myopathy.

ABSTRACT: Objective: Nemaline myopathies are a heterogeneous group of congenital myopathies caused by mutations in different genes associated with the structural and functional proteins of thin muscular filaments. Most patients have congenital onset characterized by hypotonia, respiratory issues, and abnormal deep tendon reflexes, which is a phenotype encountered in a wide spectrum of neuromuscular disorders. Whole-exome sequencing (WES) contributes to a faster diagnosis and facilitates genetic counseling. Methods: Here, we report on two Arab patients from consanguineous families diagnosed with nemaline myopathy of different phenotype spectrum severities. Results: Clinical assessment and particular prenatal history raised suspicion of neuromuscular disease. WES identified homozy

SUBMITTER: Skrypnyk C 

PROVIDER: S-EPMC10070974 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature