Homozygous EXOSC3 mutation c.92G→C, p.G31A is a founder mutation causing severe pontocerebellar hypoplasia type 1 among the Czech Roma.

@article{Schwabov2013HomozygousEM,
  title={Homozygous EXOSC3 mutation c.92G→C, p.G31A is a founder mutation causing severe pontocerebellar hypoplasia type 1 among the Czech Roma.},
  author={Jaroslava Paulasov{\'a} Schwabov{\'a} and Dana Safka Brozkova and Bořivoj Petr{\'a}k and Mahulena Moj{\vz}{\'i}{\vs}ov{\'a} and Kl{\'a}ra Pavl{\'i}{\vc}kov{\'a} and Jana Haberlov{\'a} and Lenka Mrazkova and Petra Hedvic{\'a}kov{\'a} and Ludmila Hornofov{\'a} and Marie Kaluzova and Filip Fencl and Marcela Krůtov{\'a} and Josef Z{\'a}me{\vc}n{\'i}k and Pavel Seeman},
  journal={Journal of neurogenetics},
  year={2013},
  volume={27 4},
  pages={163-9}
}
Pontocerebellar hypoplasia type 1 (PCH1) is characterized by cerebellar and anterior horn motor neuron degeneration and loss, signs of spinal muscular atrophy plus. Patients manifest severe perinatal weakness, hypotonia, and respiratory insufficiency, causing death frequently before the age of 1 year. Recently, causative mutations in EXOSC3 were reported in a majority of PCH1 patients, but the detailed clinical phenotype caused by EXOSC3 mutations, genotype-phenotype correlations, and prevalent… CONTINUE READING
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