Article
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy.
Acta neuropathologica communications - 25 Jul 2015
Ruggieri Alessandra, Brancati Francesco, Zanotti Simona, Maggi Lorenzo, Pasanisi Maria Barbara, Saredi Simona, Terracciano Chiara, Antozzi Carlo, D Apice Maria Rosaria, Sangiuolo Federica, Novelli Giuseppe, Marshall Christian R, Scherer Stephen W, Morandi Lucia, Federici Luca, Massa Roberto, Mora Marina, Minassian Berge A
Abstract excerpt
INTRODUCTION: 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. RESULTS: We detail the mutational, neuropathological,...
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