PMID- 10554001
OWN - NLM
STAT- MEDLINE
DCOM- 19991124
LR  - 20191024
IS  - 0364-5134 (Print)
IS  - 0364-5134 (Linking)
VI  - 46
IP  - 5
DP  - 1999 Nov
TI  - Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31.
PG  - 794-8
AB  - Essential myoclonus-dystonia is a neurological condition characterized by
      myoclonic and dystonic muscle contractions and the absence of other neurological 
      signs or laboratory abnormalities; it is often responsive to alcohol. The
      disorder may be familial with apparent autosomal dominant inheritance. We report 
      a large kindred with essential familial myoclonus-dystonia and map a locus for
      the disorder to a 28-cM region of chromosome 7q21-q31.
FAU - Nygaard, T G
AU  - Nygaard TG
AD  - Department of Neurology, East Orange Veteran's Administration Medical Center, NJ,
      USA.
FAU - Raymond, D
AU  - Raymond D
FAU - Chen, C
AU  - Chen C
FAU - Nishino, I
AU  - Nishino I
FAU - Greene, P E
AU  - Greene PE
FAU - Jennings, D
AU  - Jennings D
FAU - Heiman, G A
AU  - Heiman GA
FAU - Klein, C
AU  - Klein C
FAU - Saunders-Pullman, R J
AU  - Saunders-Pullman RJ
FAU - Kramer, P
AU  - Kramer P
FAU - Ozelius, L J
AU  - Ozelius LJ
FAU - Bressman, S B
AU  - Bressman SB
LA  - eng
GR  - R01 NS26656/NS/NINDS NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Ann Neurol
JT  - Annals of neurology
JID - 7707449
RN  - 0 (Genetic Markers)
RN  - 9007-49-2 (DNA)
SB  - IM
CIN - Ann Neurol. 2000 Jul;48(1):127-8. PMID: 10894231
MH  - Adolescent
MH  - Adult
MH  - Age of Onset
MH  - Aged
MH  - Cell Line
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Pair 11
MH  - *Chromosomes, Human, Pair 17
MH  - DNA/blood
MH  - Dystonia/*genetics
MH  - Female
MH  - Genetic Linkage
MH  - Genetic Markers
MH  - Genotype
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Myoclonus/*genetics
MH  - Pedigree
EDAT- 1999/11/30 00:00
MHDA- 1999/11/30 00:01
CRDT- 1999/11/30 00:00
PHST- 1999/11/30 00:00 [pubmed]
PHST- 1999/11/30 00:01 [medline]
PHST- 1999/11/30 00:00 [entrez]
AID - 10.1002/1531-8249(199911)46:5<794::aid-ana19>3.0.co;2-2 [doi]
PST - ppublish
SO  - Ann Neurol. 1999 Nov;46(5):794-8. doi:
      10.1002/1531-8249(199911)46:5<794::aid-ana19>3.0.co;2-2.