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001-es BibID:	BIBFORM020094
Első szerző:	László Aranka
Cím:	Genetically determined neuromuscular disorders of some Roma families living in Hungary / Aranka Laszlo, Peter Mayer, Jeno Kobor, Katalin Racz, Gyula Talosi, Emoke Endreffy, Agnes Herczegfalvi, Tibor Hortobagyi, Laszlo Tiszlavicz, Edit Bereg, Marta Katona, Janos Szabo, Veronika Karcagi
Dátum:	2009
ISSN:	0019-1442
Megjegyzések:	The authors discuss the clinical and molecular genetic aspects of genetically determined neuromuscular disorders of some Roma families living in Hungary. Among the autosomal recessively inherited spinal muscular atrophic (SMA) group, 8 Caucasian children had the typical 7-8 exonal deletions of the SMA gene, but only 2 patients belonged to the Roma population. There was no difference in the molecular genetic findings among the Caucasian and the Roma SMA patients. All of them had 7-8 exonal deletions of the SMA gene. We wanted to call attention to the founder mutation of the Roma population in 7 patients suffering from congenital myasthenia (CMS) from 3 Roma families. The 1267G deletion for CMS was detected by molecular genetic method. Clinical onset was pubertal and relatively slow progression of specific and phenotypic features for this founder mutation of acetyl-cholin receptor epsylon gene. In 2 patients (sister and brother) the sarcoglycanopathy 2C type C283Q mutation was proven in one Roma family suffering from limb-girdle muscular dystrophy (LGMD). Two out of the three facioscapular-humeral dystrophy (FSHD) Roma families carried 21.8 kb and 18.5 kb alleles in FSHD A1 gene (D4S139). In one family together with prenatal diagnosis founder mutation in FSHD A1 gene was detected, according to the autosomal dominant (AD) inheritance. In (F2) prenatal diagnosis was carried out, 18.5 kb/18.5 kb homozygosity was proven in the fetus, so the pregnancy was interrupted. In the CMS, LGMD and FSHD Roma patients ancient typical Roma founder mutations were found.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény hazai lapban
Megjelenés:	Ideggyógyászati Szemle. - 62 : 1-2 (2009), p. 41-47. -
További szerzők:	Mayer Péter Kóbor Jenő Rácz Katalin Tálosi Gyula Endreffy Emőke Herczegfalvi Ágnes Hortobágyi Tibor (1965-) (patológus) Tiszlavicz László Bereg Edit Katona Márta Szabó János (Szeged) Karcagi Veronika (molekuláris biológus)
Internet cím:	Intézményi repozitóriumban (DEA) tárolt változat
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