Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia.

@article{PaisnRuiz2009IdentificationOA,
  title={Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia.},
  author={Coro Pais{\'a}n-Ruiz and Javier Ru{\'i}z-Mart{\'i}nez and Marta Ruibal and Kin Y. Mok and Bego{\~n}a Indakoetxea and Ana Gorostidi and Jos{\'e} F{\'e}lix Mart{\'i} Mass{\'o}},
  journal={Movement disorders : official journal of the Movement Disorder Society},
  year={2009},
  volume={24 16},
  pages={2428-9}
}
Dystonia is a movement disorder characterized by involuntary, sustained muscular contractions affecting one or more sites of the body and abnormal postures. The clinical spectrum of dystonia is diverse: however, the most common form of the disease is primary torsion dystonia (PTD). PTD usually onsets in infancy or adolescence and affects the trunk, neck, or… CONTINUE READING