The Limb Girdle Muscular Dystrophy Health Index (LGMD-HI)

Limb girdle muscular dystrophy (LGMD) is a genetically diverse group of rare, autosomal muscular dystrophies caused by mutations in genes encoding proteins that are needed for muscle maintenance, repair and normal function [1,2]. Using next-generation sequencing (NGS), more than 30 subtypes of LGMD at different autosomal loci have been identified in LGMD [2]. Since 2018 these have been categorized with the nomenclature “LGMD D” for autosomal dominant and “LGMD R” for autosomal recessive mutations [3].

Source: Neuromuscular Disorders - April 29, 2024 Category: Neurology Authors: Joy A. Stouffer, Kameron Bates, Leroy R. Thacker, Chad Heatwole, Nicholas E. Johnson Source Type: research