Limb-Girdle Muscular Dystrophies (LGMD): Clinical features, diagnosis and genetic variability through next generation sequencing.

ABSTRACT:

Background

Limb-Girdle Muscular Dystrophy (LGMD) is a rare heterogeneous group of neuromuscular disorders distinguished by progressive weakness of limb-girdle muscles. Diagnosis of LGMD is a challenging task and requires multiple obligatory assays.

Objective

To study the epidemiology, clinical features, the genetic variability in patients diagnosed with LGMD through Next Generation Sequencing.Material and MethodA retrospective study of 27 patients suspected of LGMD was done to study the phenotypic presentation and the genotypic alteration of the patients, presenting to a tertiary care center in Rajasthan were studied.

Results

Out of the twenty-seven patients suspected of LGMD, nineteen patients took genetic tests, while eight patients underwent biopsy. Among the ninet

SUBMITTER: Mathur P 

PROVIDER: S-EPMC11800303 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature