Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy
Titel:
Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy
Auteur:
Morales-Rosado, Joel A. Schwab, Tanya L. Macklin-Mantia, Sarah K. Foley, A. Reghan Pinto e Vairo, Filippo Pehlivan, Davut Donkervoort, Sandra Rosenfeld, Jill A. Boyum, Grace E. Hu, Ying Cong, Anh T.Q. Lotze, Timothy E. Mohila, Carrie A. Saade, Dimah Bharucha-Goebel, Diana Chao, Katherine R. Grunseich, Christopher Bruels, Christine C. Littel, Hannah R. Estrella, Elicia A. Pais, Lynn Kang, Peter B. Zimmermann, Michael T. Lupski, James R. Lee, Brendan Schellenberg, Matthew J. Clark, Karl J. Wierenga, Klaas J. Bönnemann, Carsten G. Klee, Eric W.