Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.

@article{Ghaoui2016MutationsIH,
  title={Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.},
  author={Roula Ghaoui and Johanna Palmio and Janice K. Brewer and Monkol Lek and Merrilee Needham and Anni Evil{\"a} and Peter Hackman and Per-Harald Jonson and Sini Penttil{\"a} and Anna Vihola and Sanna Huovinen and Mikaela Lindfors and Ryan L Davis and Leigh B. Waddell and Simran Kaur and C. Yiannikas and Kathryn N North and Nigel F. Clarke and Daniel G. MacArthur and Carolyn M. Sue and Bjarne Udd},
  journal={Neurology},
  year={2016},
  volume={86 4},
  pages={
          391-8
        }
}
OBJECTIVE To report novel disease and pathology due to HSPB8 mutations in 2 families with autosomal dominant distal neuromuscular disease showing both myofibrillar and rimmed vacuolar myopathy together with neurogenic changes. METHODS We performed whole-exome sequencing (WES) in tandem with linkage analysis and candidate gene approach as well as targeted next-generation sequencing (tNGS) to identify causative mutations in 2 families with dominant rimmed vacuolar myopathy and a motor… CONTINUE READING

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