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.
Lingua originale | English |
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pagine (da-a) | 73-73 |
Numero di pagine | 1 |
Rivista | BMC Medical Genetics |
Volume | 13 |
Numero di pubblicazione | Agosto |
DOI | |
Stato di pubblicazione | Pubblicato - 2012 |
All Science Journal Classification (ASJC) codes
- ???subjectarea.asjc.1300.1311???
- ???subjectarea.asjc.2700.2716???
Keywords
- Adolescent
- Adult
- Alleles
- Blotting
- Child
- Comparative Genomic Hybridization
- Dosage Compensation
- Duchenne
- Dystrophin
- Female
- Genetic
- Heterozygote
- Humans
- Middle Aged
- Muscle Weakness
- Muscular Dystrophy
- Mutation
- Osteopontin
- Phenotype
- Polymerase Chain Reaction
- Preschool
- Transcription
- Western
- X Chromosome Inactivation
- Young Adult