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Paper Details

Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.
Acta Neuropathol
0
2023
-, -dystrobrevin, -syntrophin, Autism spectrum disorder, CK, DGC, DGC proteins, DTNA, DTNA variants, Gln523_Glu529del DTNA variant, Mice, Myalgia, Proximal lower limb weakness, biopsies, c, c.1567_1587 deletion, c.1567_1587del; p, childhood-onset, creatine, creatine kinase, dystrobrevin, dystrophin, dystrophin-glycoprotein complex, exercise intolerance, human, humans, hyperCKemia, learning disabilities, monoallelic, muscular dystrophy, myalgias, myopathic and dystrophic, paucisymptomatic hyperCKemia, proximal muscle weakness, rhabdomyolysis, skeletal muscle disease, syntrophin, utrophin
Author NameAffiliation
Anne O'Donnell-LuriaBoston Children's Hospital and Harvard Medical School
Anne O'Donnell-LuriaAnalytic and Translational Genetics Unit and Center for Genomic Medicine, Massachusetts General Hospital
Anne O'Donnell-LuriaCenter for Mendelian Genomics, Broad Institute of MIT and Harvard
Anne O'Donnell-LuriaBoston Children's Hospital and Harvard Medical School
Anne O'Donnell-LuriaCenter for Mendelian Genomics, Broad Institute of MIT and Harvard
Anne O'Donnell-LuriaAnalytic and Translational Genetics Unit and Center for Genomic Medicine, Massachusetts General Hospital
Hart G W LidovBoston Children's Hospital and Harvard Medical School
Basil T DarrasBoston Children's Hospital and Harvard Medical School
Louis M KunkelBoston Children's Hospital and Harvard Medical School
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