Abstract
DNAJB2 is a J-domain cochaperone best known for its role in proteasomal turnover of client proteins. Two isoforms are produced through alternative splicing: DNAJB2a shows soluble cytosolic and nuclear localization, whereas DNAJB2b is anchored to the ER by a geranylgeranyl anchor. Recessive loss-of-function mutations in DNAJB2 have so far been shown to cause hereditary neuropathy manifesting as distal hereditary motor neuropathy or Charcot–Marie–Tooth disease type 2. We report here molecular characterization of the DNAJB2 mutation c.832T>G (p.Ter278Glyext*83), which was found to segregate with clinically variable neuromyopathy in a single family.
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