Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance.

@article{Peeters2013MolecularDI,
  title={Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance.},
  author={Kristien Peeters and Ivan Litvinenko and Bob Asselbergh and Leonardo Almeida-Souza and Teodora Chamova and Thomas Geuens and Elke Ydens and Magdalena Zimon and Joy Irobi and Els De Vriendt and Vicky de Winter and Tinne Ooms and Vincent Timmerman and Ivailo Tournev and Albena Jordanova},
  journal={American journal of human genetics},
  year={2013},
  volume={92 6},
  pages={
          955-64
        }
}
The most common form of spinal muscular atrophy (SMA) is a recessive disorder caused by deleterious SMN1 mutations in 5q13, whereas the genetic etiologies of non-5q SMA are very heterogeneous and largely remain to be elucidated. In a Bulgarian family affected by autosomal-dominant proximal SMA, we performed genome-wide linkage analysis and whole-exome sequencing and found a heterozygous de novo c.320C>T (p.Ser107Leu) mutation in bicaudal D homolog 2 (Drosophila) (BICD2). Further analysis of… CONTINUE READING
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