Article
Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure.
Acta neuropathologica - 1 Jan 2023
Weihl Conrad C, Töpf Ana, Bengoechea Rocio, Duff Jennifer, Charlton Richard, Garcia Solange Kapetanovic, Domínguez-González Cristina, Alsaman Abdulaziz, Hernández-Laín Aurelio, Franco Luis Varona, Sanchez Monica Elizabeth Ponce, Beecroft Sarah J, Goullee Hayley, Daw Jil, Bhadra Ankan, True Heather, Inoue Michio, Findlay Andrew R, Laing Nigel, Olivé Montse, Ravenscroft Gianina, Straub Volker
Abstract excerpt
DNAJ/HSP40 co-chaperones are integral to the chaperone network, bind client proteins and recruit them to HSP70 for folding. We performed exome sequencing on patients with a presumed hereditary muscle disease and no genetic diagnosis. This identified four individuals from three unrelated families carrying an unreported homozygous stop gain (c.856A > T; p.Lys286Ter), or homozygous missense variants (c.74G > A;...
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