Protein aggregation is a common cause of neuropathology. The protein aggregation myopathy Limb-Girdle Muscular Dystrophy 1D (LGMD1D) is caused by mutations of amino acids Phe89 or Phe93 of DNAJB6, a co-chaperone of the HSP70 anti-aggregation protein. Another DNAJB6 mutation, Pro96Arg, was found to cause a distal-onset myopathy in one family.
Ruggieri, A., Brancati, F., Zanotti, S., Maggi, L., Pasanisi, M., Saredi, S., et al. (2015). Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy. ACTA NEUROPATHOLOGICA COMMUNICATIONS, 3(1), 44 [10.1186/s40478-015-0224-0].
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy
D'APICE, MARIA ROSARIA;SANGIUOLO, FEDERICA CARLA;NOVELLI, GIUSEPPE;MASSA, ROBERTO;
2015-07-01
Abstract
Protein aggregation is a common cause of neuropathology. The protein aggregation myopathy Limb-Girdle Muscular Dystrophy 1D (LGMD1D) is caused by mutations of amino acids Phe89 or Phe93 of DNAJB6, a co-chaperone of the HSP70 anti-aggregation protein. Another DNAJB6 mutation, Pro96Arg, was found to cause a distal-onset myopathy in one family.File in questo prodotto:
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