Article

Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure

2022-07-31

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; p.Arg25Gl...

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Literature Corpus work: b5baf2a6-5631-5e47-ad0e-adcaa0f2187f
DOI: 10.1101/2022.07.31.502226

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