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Torsion dystonia
- ... AJ, Gusella JF, Breakefield XO. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat ...
- ... hypomyelination like other TUBB4A gene mutations. beta-5 dystonia 4, torsion (autosomal dominant) DYT4 TUBB4 tubulin beta-4 chain tubulin beta-4A chain isoform 1 tubulin beta-4A chain isoform 2 tubulin beta-4A chain isoform 3 tubulin ... the autoregulatory domain of beta-tubulin 4a cause hereditary dystonia. Ann Neurol. 2013 Apr;73(4):546-53. ...
- ... group of conditions characterized by involuntary movements, twisting (torsion) and tensing of various muscles, and unusual positioning of affected body parts.Most of the THAP1 gene mutations that cause dystonia 6 change single protein building blocks (amino acids) ...
- ... group of conditions characterized by involuntary movements, twisting (torsion) and tensing of various muscles, and unusual positioning of affected body parts.Most of the PRKRA gene mutations that cause dystonia 16 change single protein building blocks (amino acids) ...