@article{fba775a6337942c2b17c9191ce35378b,
title = "Clinical expression of Menkes disease in females with normal karyotype",
abstract = "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.",
keywords = "Adenosine Triphosphatases, Cation Transport Proteins, Chromosomes, Human, X, Copper, Female, Gene Expression Regulation, Humans, Karyotype, Male, Menkes Kinky Hair Syndrome, Mutation, Phenotype",
author = "M{\o}ller, {Lisbeth Birk} and Malgorzata Lenartowicz and Marie-Therese Zabot and Arnaud Josiane and Lydie Burglen and Chris Bennett and Daniel Riconda and Richard Fisher and Sandra Janssens and Shehla Mohammed and Margreet Ausems and Zeynep T{\"u}mer and Nina Horn and Jensen, {Thomas G.}",
year = "2012",
month = jan,
doi = "10.1186/1750-1172-7-6",
language = "English",
volume = "7",
pages = "6",
journal = "Orphanet Journal of Rare Diseases",
issn = "1750-1172",
publisher = "BioMed Central",
}