Clinical expression of Menkes disease in females with normal karyotype
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
Menkes Disease (MD) is a rare X-linked recessive fatal neurodegenerative disorder caused by mutations in the ATP7A gene, and most patients are males. Female carriers are mosaics of wild-type and mutant cells due to the random X inactivation, and they are rarely affected. In the largest cohort of MD patients reported so far which consists of 517 families we identified 9 neurologically affected carriers with normal karyotypes.
Originalsprog | Engelsk |
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Tidsskrift | Orphanet Journal of Rare Diseases |
Vol/bind | 7 |
Sider (fra-til) | 6 |
ISSN | 1750-1172 |
DOI | |
Status | Udgivet - jan. 2012 |
ID: 38410523