Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development.

@article{Fiorillo2014NovelDD,
  title={Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development.},
  author={Chiara Fiorillo and Francesca Moro and Julie Y. Yi and Sarah J. Weil and Giacomo Brisca and Guja Astrea and Mariasavina Severino and Alessandro Romano and Roberta Battini and Andrea Rossi and Carlo Minetti and Claudio Bruno and Filippo Maria Santorelli and Richard B Vallee},
  journal={Human mutation},
  year={2014},
  volume={35 3},
  pages={
          298-302
        }
}
DYNC1H1 encodes the heavy chain of cytoplasmic dynein 1, a motor protein complex implicated in retrograde axonal transport, neuronal migration, and other intracellular motility functions. Mutations in DYNC1H1 have been described in autosomal-dominant Charcot-Marie-Tooth type 2 and in families with distal spinal muscular atrophy (SMA) predominantly affecting the legs (SMA-LED). Recently, defects of cytoplasmic dynein 1 were also associated with a form of mental retardation and neuronal migration… CONTINUE READING
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