Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy
HMGCR基因的双等位基因变异会导致常染色体隐性遗传的进行性肢带型肌营养不良症。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2023.04.006
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