PMID- 10435508
OWN - NLM
STAT- MEDLINE
DCOM- 19991102
LR  - 20191024
IS  - 0885-3185 (Print)
IS  - 0885-3185 (Linking)
VI  - 14
IP  - 4
DP  - 1999 Jul
TI  - GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in 
      Germany.
PG  - 681-3
AB  - We examined 57 patients with idiopathic torsion dystonia (ITD) for the 3-bp GAG
      deletion in the DYT1 gene on human chromosome 9q34. Three of five patients with
      early limb-onset ITD, one of them with a positive family history, tested positive
      for the mutation, as did one young patient with multifocal dystonia and a short
      course of the disease. Two patients with early-onset generalized dystonia
      beginning in the cervical muscles, as well as five other patients with
      multifocal, 14 patients with segmental, and 30 patients with focal cervical
      dystonia did not carry the mutation. This suggests that the GAG deletion is
      responsible for a major portion of cases of typical early limb-onset dystonia,
      but not for other types of dystonia, in our population.
FAU - Kamm, C
AU  - Kamm C
AD  - Department of Neurology, Klinikum Grosshadern, Ludwig-Maximilians-Universitat,
      Munchen, Germany.
FAU - Castelon-Konkiewitz, E
AU  - Castelon-Konkiewitz E
FAU - Naumann, M
AU  - Naumann M
FAU - Heinen, F
AU  - Heinen F
FAU - Brack, M
AU  - Brack M
FAU - Nebe, A
AU  - Nebe A
FAU - Ceballos-Baumann, A
AU  - Ceballos-Baumann A
FAU - Gasser, T
AU  - Gasser T
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Mov Disord
JT  - Movement disorders : official journal of the Movement Disorder Society
JID - 8610688
RN  - 0 (Carrier Proteins)
RN  - 0 (Genetic Markers)
RN  - 0 (Molecular Chaperones)
RN  - 0 (TOR1A protein, human)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Age of Onset
MH  - Aged
MH  - Carrier Proteins/*genetics
MH  - Child
MH  - *Chromosomes, Human, Pair 9
MH  - Disease Progression
MH  - Dystonia/classification/*genetics
MH  - *Extremities
MH  - Family Health
MH  - Female
MH  - *Gene Deletion
MH  - Genetic Markers
MH  - Germany
MH  - Haplotypes
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - *Molecular Chaperones
MH  - Polymorphism, Restriction Fragment Length
EDAT- 1999/08/06 00:00
MHDA- 1999/08/06 00:01
CRDT- 1999/08/06 00:00
PHST- 1999/08/06 00:00 [pubmed]
PHST- 1999/08/06 00:01 [medline]
PHST- 1999/08/06 00:00 [entrez]
AID - 10.1002/1531-8257(199907)14:4<681::aid-mds1020>3.0.co;2-m [doi]
PST - ppublish
SO  - Mov Disord. 1999 Jul;14(4):681-3. doi:
      10.1002/1531-8257(199907)14:4<681::aid-mds1020>3.0.co;2-m.