Becker muskeldystrofi (BMD) og Klinefelter's syndrom: en mulig årsag til variable udtryk for BMD i en stamtavle
- 21 februar 2009
- Senest opdateret: Søndag, 30 januar 2011 21:02
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Vi beskriver en mand med Becker muskeldystrofi hvis svaghed var minimal i modsætning til, at hans mere alvorligt berørt nevøer. Denne mand havde en Klinefelter karyotype (47, XXY) og hans milde symptomer kan tilskrives ham er heterozygot for muskeldystrofi genet. Dette er den første beretning fra en person med både Klinefelter's syndrom og Becker muskeldystrofi. Denne kombination kan være en forklaring på de variable udtryk for X forbundet muskeldystrofi bemærkes i nogle stamtavler.
(Link til orginal artikel http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1017298 artiklen er på engelsk).
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