Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicity
Sign Up to like & getrecommendations! Published in 2020 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2020.03.010
Abstract: Recently the scientific community has started to view Bethlem myopathy 1 and Ullrich congenital muscular dystrophy as two extremes of a collagen VI-related myopathy spectrum rather than two separate entities, as both are caused by… read more here.
Keywords: collagen related; limb girdle; related limb; girdle syndrome ... See more keywords
Unique genotype-phenotype correlations within LAMA2-related limb girdle muscular dystrophy in Chinese patients
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2023.1158094
Abstract: Background LAMA2-related limb girdle muscular dystrophy (LGMD R23) is rare. The detailed clinical phenotypes and genetic information associated with LGMD R23 are unknown. Methods We conducted a retrospective cross-sectional and longitudinal study on 19 LGMD… read more here.
Keywords: lama2 related; related limb; limb girdle; muscular dystrophy ... See more keywords