Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy.

ABSTRACT:

Objective

Limb girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous autosomal conditions with some degree of phenotypic homogeneity. LGMD is defined as having onset >2 years of age with progressive proximal weakness, elevated serum creatine kinase levels and dystrophic features on muscle biopsy. Advances in massively parallel sequencing have led to a surge in genes linked to LGMD.

Methods

The ClinGen Muscular Dystrophies and Myopathies gene curation expert panel (MDM GCEP, formerly Limb Girdle Muscular Dystrophy GCEP) convened to evaluate the strength of evidence supporting gene-disease relationships (GDR) using the ClinGen gene-disease clinical validity framework to evaluate 31 genes implicated in LGMD.

Results

The GDR was exclusively LGMD for

SUBMITTER: Mohan S 

PROVIDER: S-EPMC11537137 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature