Search: onr:"swepub:oai:DiVA.org:uu-487084" >
Dominantly inherite...
Dominantly inherited familial myasthenia gravis as a separate genetic entity without involvement of defined candidate gene loci
-
Li, Fang-Yuan (author)
-
Szobor, Albert (author)
-
Croxen, Rebecca (author)
-
show more...
-
Anselmo, Victoria (author)
-
Yuan, Qiu-Ping (author)
-
- Lindblad, Kerstin (author)
- Department of Molecular Medicine, Karolinska Hospital
-
- Schalling, Martin (author)
- Karolinska Institutet
-
Komoly, Samuel (author)
-
Beeson, David (author)
-
- Larsson, Catharina (author)
- Karolinska Institutet
-
show less...
-
(creator_code:org_t)
- 2001-03-01
- 2001
- English.
-
In: International Journal of Molecular Medicine. - : Spandidos Publications. - 1107-3756 .- 1791-244X. ; 7:3, s. 289-294
- Related links:
-
https://urn.kb.se/re...
-
show more...
-
https://doi.org/10.3...
-
http://kipublication...
-
show less...
Abstract
Subject headings
Close
- Myasthenia gravis (MG) is a sporadic autoimmune disorder affecting neuromuscular transmission. Very rarely autoimmune myasthenia gravis may be inherited within a family. We present here the genetic analysis of a Hungarian family where nine members from two generations are affected by myasthenia gravis. Genetic characterisation of this unique Hungarian family using linkage analysis and mutation screening excludes the involvement of defined candidate gene loci. These findings point to familial MG as a separate genetic entity. Identification of the underlying genetic defect in this family may greatly enhance our understanding of the pathogenesis of myasthenia gravis.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Publication and Content Type
- ref (subject category)
- art (subject category)
Find in a library
To the university's database
- By the author/editor
-
Li, Fang-Yuan
-
Szobor, Albert
-
Croxen, Rebecca
-
Anselmo, Victori ...
-
Yuan, Qiu-Ping
-
Lindblad, Kersti ...
-
show more...
-
Schalling, Marti ...
-
Komoly, Samuel
-
Beeson, David
-
Larsson, Cathari ...
-
show less...
- About the subject
-
- MEDICAL AND HEALTH SCIENCES
-
MEDICAL AND HEAL ...
-
and Basic Medicine
-
and Medical Genetics
- Articles in the publication
-
International Jo ...
- By the university
-
Uppsala University
-
Karolinska Institutet