Andres Nascimento, Christine C Bruels, Sandra Donkervoort, A Reghan Foley, Anna Codina, Jose C Milisenda, Elicia A Estrella, Chengcheng Li, Jordi Pijuan, Isabelle Draper, Ying Hu, Seth A Stafki, Lynn S Pais, Vijay S Ganesh, Anne O'Donnell-Luria, Safoora B Syeda, Laura Carrera-García, Jessica Expósito-Escudero, Delia Yubero, Loreto Martorell, Iago Pinal-Fernandez, Hart G W Lidov, Andrew L Mammen, Josep M Grau-Junyent, Carlos Ortez, Francesc Palau, Partha S Ghosh, Basil T Darras, Cristina Jou, Louis M Kunkel, Janet Hoenicka, Carsten G Bönnemann, Peter B Kang, Daniel Natera-de Benito
DTNA encodes α-dystrobrevin, a component of the macromolecular dystrophin-glycoprotein complex (DGC) that binds to dystrophin/utrophin and α-syntrophin. Mice lacking α-dystrobrevin have a muscular dystrophy phenotype, but variants in DTNA have not previously been associated with human skeletal muscle disease. We present 12 individuals from four unrelated families with two different monoallelic DTNA variants affecting the coiled-coil domain of α-dystrobrevin. The five affected individuals from family A harbor a c...
April 2023: Acta Neuropathologica