DNAJB6 myopathy in an Asian cohort and cytoplasmic/nuclear inclusions
T Sato, YK Hayashi, Y Oya, T Kondo, K Sugie… - Neuromuscular …, 2013 - Elsevier
DNAJB6, which encodes DnaJ homolog, subfamily B, member 6 (DNAJB6) was recently
identified as a causative gene for limb-girdle muscular dystrophy type 1D (LGMD1D).
DNAJB6 is a member of heat shock protein 40 and contains a J domain, G/F domain and C-
terminal domain. Only three different mutations have been identified in 11 families. In this
study, we identified seven Japanese individuals from four unrelated families who carried a
DNAJB6 mutation. We found a novel p. Phe96Ile substitution and a previously reported p …
identified as a causative gene for limb-girdle muscular dystrophy type 1D (LGMD1D).
DNAJB6 is a member of heat shock protein 40 and contains a J domain, G/F domain and C-
terminal domain. Only three different mutations have been identified in 11 families. In this
study, we identified seven Japanese individuals from four unrelated families who carried a
DNAJB6 mutation. We found a novel p. Phe96Ile substitution and a previously reported p …