Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure
DNAJB4基因功能缺失变异会导致肌病，并伴有早期呼吸衰竭。
期刊:Acta Neuropathologica
影响因子:9.3
doi:10.1007/s00401-022-02510-8
Conrad C Weihl ,Ana Töpf ,Rocio Bengoechea ,Jennifer Duff ,Richard Charlton ,Solange Kapetanovic Garcia ,Cristina Domínguez-González ,Abdulaziz Alsaman ,Aurelio Hernández-Laín ,Luis Varona Franco ,Monica Elizabeth Ponce Sanchez ,Sarah J Beecroft ,Hayley Goullee ,Jil Daw ,Ankan Bhadra ,Heather True ,Michio Inoue ,Andrew R Findlay ,Nigel Laing ,Montse Olivé ,Gianina Ravenscroft ,Volker Straub
