Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy
DNAJB6 G/F 结构域的完全丧失和新的错义突变导致远端发病的 DNAJB6 肌病
期刊:Acta Neuropathologica Communications
影响因子:6.2
doi:10.1186/s40478-015-0224-0
Alessandra Ruggieri, Francesco Brancati, Simona Zanotti, Lorenzo Maggi, Maria Barbara Pasanisi, Simona Saredi, Chiara Terracciano, Carlo Antozzi, Maria Rosaria D Apice, Federica Sangiuolo, Giuseppe Novelli, Christian R Marshall, Stephen W Scherer, Lucia Morandi, Luca Federici, Roberto Massa, Marina
