Article
DNAJB6 myopathy in an Asian cohort and cytoplasmic/nuclear inclusions.
Neuromuscular disorders : NMD - 1 Mar 2013
Sato Takatoshi, Hayashi Yukiko K, Oya Yasushi, Kondo Tomoyoshi, Sugie Kazuma, Kaneda Daita, Houzen Hideki, Yabe Ichiro, Sasaki Hidenao, Noguchi Satoru, Nonaka Ikuya, Osawa Makiko, Nishino Ichizo
Abstract excerpt
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...
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