Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion
ZAK激酶的隐性突变会导致先天性肌病,伴有肌纤维类型比例失调。
期刊:Brain
影响因子:11.7
doi:10.1093/brain/aww257
Vasli, Nasim; Harris, Elizabeth; Karamchandani, Jason; Bareke, Eric; Majewski, Jacek; Romero, Norma B; Stojkovic, Tanya; Barresi, Rita; Tasfaout, Hichem; Charlton, Richard; Malfatti, Edoardo; Bohm, Johann; Marini-Bettolo, Chiara; Choquet, Karine; Dicaire, Marie-Josée; Shao, Yi-Hong; Topf, Ana; O'Ferrall, Erin; Eymard, Bruno; Straub, Volker; Blanco, Gonzalo; Lochmüller, Hanns; Brais, Bernard; Laporte, Jocelyn; Tétreault, Martine