Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signalling.

@article{Gregianin2016LossoffunctionMI,
  title={Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signalling.},
  author={Elisa Gregianin and Giorgia Pallafacchina and Sofia Zanin and Valeria Crippa and Paola Rusmini and Angelo Poletti and Mingyan Fang and Zhouxuan Li and Laura Diano and Antonio Petrucci and Ludovico Lispi and Tiziana L Cavallaro and Gian Maria Fabrizi and Maria Muglia and Francesca Boaretto and Andrea Vettori and Rosario Rizzuto and Maria Luisa Mostacciuolo and G Vazza},
  journal={Human molecular genetics},
  year={2016},
  volume={25 17},
  pages={3741-3753}
}
Distal hereditary motor neuropathies (dHMNs) are clinically and genetically heterogeneous neurological conditions characterized by degeneration of the lower motor neurons. So far, 18 dHMN genes have been identified, however, about 80% of dHMN cases remain without a molecular diagnosis. By a combination of autozygosity mapping, identity-by-descent segment detection and whole-exome sequencing approaches, we identified two novel homozygous mutations in the SIGMAR1 gene (p.E138Q and p.E150K) in two… CONTINUE READING

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