Gene: [09q34/DYT1] dystonia 1, torsion (autosomal dominant; musculorum deformans); [ITD1 ]
|
CAG |
The five forms of dystonia are registered: 1, torsion (autosomal dominant; musculorum deformans); 2, torsion (autosomal recessive) (GEM:00.0/DYT2); 3, torsion (with Parkinsonism, Filipino type) (GEM:0Xq131/DYT3); 4, torsion (autosomal dominant) (GEM:00.0/DYT4); 6, torsion (autosomal dominant) (GEM:08^/DYT6); 7, torsion (autosomal dominant) (GEM:18p1/DYT7)." |
|
REF |
LOC "Kramer PL &: AJHG, 55, 468-475, 1994 LOC,LIN "Kramer PL &: AJHG, 45, (Suppl), A147, 1989 LOC "Ozelius LJ &: AJHG, 50, 619-628, 1992 LOC,LIN "Ozelius LJ &: CCG, 51, (HGM10), 1056, 1989a LOC,LIN "Ozelius LJ &: Neuron, 2, 1427-1434, 1989b LOC "Risch N &: Nature Genet, 9, 152-159, 1995 |
|
KEY |
neu, devd |
|
CLA |
unknown, basic |
|
LOC |
09 q34 |
|
MIM |
MIM: 128100 |
|
SYN |
ITD1 |
