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001-es BibID:	BIBFORM079823
Első szerző:	Fekete Klára (neurológus)
Cím:	A novel form of distal hereditary motor neuropathy type II (distal HMN II) / K. Fekete, A. Schirmacher, E. De Vriendt, V. Timmerman, G. Kuhlenbäumer
Dátum:	2005
Megjegyzések:	Introduction: We investigated a German family with typical adult onset distal HMN II. The family contains 28 members, of whom 12 are certainly a?ected by the disease. Methods: Mutations in the coding regions of the two known genes for distal HMN (HSP22 and HSP27) were excluded by direct DNA sequencing. Other genes, causing diseases with similar phenotypes (see results) were excluded by linkage analysis using short-tandem-repeat (STR) markers within or very close to the genes. In addition, we started a genome-wide linkage screen using the ABI-Prism Linkage Mapping Set -10 containing 382 autosomal STR markers. Two point LOD scores were calculated using the program MLINK from the FASTLINK program package. Results: We did not ?nd any disease-associated mutations in the HSP22 or HSP27 genes. The candidate genes glycyl-tRNA synthetase(GARS),BerardinelliSeipCongenitalLipodystrophy2gene (BSCL2) and dynactin 1 (DCTN1) could be excluded by linkage analysis. 60% of the genome-wide linkage screen is completed, but so far, we did not ?nd any region with conclusive LOD scores. Conclusion: We excluded more than 60% of the genome and the most important known genes causing distal HMN and related phenotypes by linkage and mutation analysis. It is, therefore, probably that the family with HMN examined in this study represents a novel genetic entity.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idézhető absztrakt Hereditary neuropathy
Megjelenés:	European Journal of Neurology. - 12 : Suppl. 2 (2005), p. 118. -
További szerzők:	Schirmacher, Anja De Vriendt, E. Timmerman, Vincent Kuhlenbäumer, Gregor
Internet cím:	Intézményi repozitóriumban (DEA) tárolt változat
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