Loss of Function Variants in DNAJB4 Cause a Myopathy with Early Respiratory Failure.
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 Acta Neuropathologica（2022）
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Myopathy,Chaperone,Protein aggregation,Congenital myopathy,Myofibrillar myopathy
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