Article

Distinctive chaperonopathy in skeletal muscle associated with the dominant variant in <i>DNAJB4</i>

2022-07-28

Abstract excerpt

DnaJ homolog, subfamily B, member 4, a member of the heat shock protein 40 chaperones encoded by DNAJB4 , is highly expressed in myofibers. We identified a heterozygous c.270 T>A (p.F90L) variant in DNAJB4 in a family with a dominantly inherited distal myopathy, in which affected members have specific features on muscle pathology represented by the presence of cytoplasmic inclusions and the accumulation of desmi...

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Literature Corpus work: 0ca6fa6a-cd89-5dc1-af61-89ee7c9e8c9f
DOI: 10.1101/2022.07.26.501446

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