@article{7b0519eee53a4a4b9bbee4e9fc68cf31,
title = "Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype",
abstract = "Although Duchenne and Becker muscular dystrophies, X-linked recessive myopathies, predominantly affect males, a clinically significant proportion of females manifesting symptoms have also been reported. They represent an heterogeneous group characterized by variable degrees of muscle weakness and/or cardiac involvement. Though preferential inactivation of the normal X chromosome has long been considered the principal mechanism behind disease manifestation in these females, supporting evidence is controversial.",
keywords = "Adolescent, Adult, Alleles, Blotting, Western, Child, Child, Preschool, Comparative Genomic Hybridization, Dosage Compensation, Genetic, Dystrophin, Female, Heterozygote, Humans, Middle Aged, Muscle Weakness, Muscular Dystrophy, Duchenne, Mutation, Osteopontin, Phenotype, Polymerase Chain Reaction, Transcription, Genetic, X Chromosome Inactivation, Young Adult, Adolescent, Adult, Alleles, Blotting, Western, Child, Child, Preschool, Comparative Genomic Hybridization, Dosage Compensation, Genetic, Dystrophin, Female, Heterozygote, Humans, Middle Aged, Muscle Weakness, Muscular Dystrophy, Duchenne, Mutation, Osteopontin, Phenotype, Polymerase Chain Reaction, Transcription, Genetic, X Chromosome Inactivation, Young Adult",
author = "Marika Pane and Mercuri, {Eugenio Maria} and Adele D'Amico and Bertini, {Enrico Silvio} and Simona Brioschi and Francesca Gualandi and Chiara Scotton and Annarita Armaroli and Matteo Bovolenta and Falzarano, {Maria S.} and Patrizia Sabatelli and Rita Selvatici and Giulia Ricci and Gabriele Siciliano and Silvana Tedeschi and Antonella Pini and Liliana Vercelli and {De Grandis}, Domenico and Luciano Merlini and Tiziana Mongini and Alessandra Ferlini",
year = "2012",
doi = "10.1186/1471-2350-13-73",
language = "English",
volume = "13",
pages = "73--73",
journal = "BMC MEDICAL GENETICS",
issn = "1471-2350",
publisher = "BIOMED CENTRAL LTD, MIDDLESEX HOUSE, 34-42 CLEVELAND ST, LONDON, ENGLAND, W1T 4LB",
}