LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation.

ABSTRACT: Background: Laminopathies are caused by rare alterations in LMNA, leading to a wide clinical spectrum. Though muscular dystrophy begins at early ages, disease progression is different in each patient. We investigated variability in laminopathy phenotypes by performing a targeted genetic analysis of patients diagnosed with LMNA-related muscular dystrophy to identify rare variants in alternative genes, thereby explaining phenotypic differences. Methods: We analyzed 105 genes associated with muscular diseases by targeted sequencing in 26 pediatric patients of different countries, diagnosed with any LMNA-related muscular dystrophy. Family members were also clinically assessed and genetically analyzed. Results: All patients carried a pathogenic rare var

SUBMITTER: Cesar S 

PROVIDER: S-EPMC10080029 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature