Article
Electroretinogram abnormalities in FKRP-related limb-girdle muscular dystrophy (LGMDR9).
Documenta ophthalmologica. Advances in ophthalmology - 1 Feb 2023
Hagedorn Joshua L, Dunn Taylor M, Bhattarai Sajag, Stephan Carrie, Mathews Katherine D, Pfeifer Wanda, Drack Arlene V
Abstract excerpt
BACKGROUND: Dystroglycanopathies are a heterogeneous group of membrane-related muscular dystrophies. The dystroglycanopathy phenotype includes a spectrum of severity ranging from severe congenital muscular dystrophy to adult-onset limb-girdle muscular dystrophy (LGMD). LGMDR9 is a dystroglycanopathy caused by mutations in the FKRP gene. Previous studies have characterized electroretinogram findings of...
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