Article
Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD)
Human molecular genetics - 1 May 1995
Lunt P W, Jardine P E, Koch M C, Maynard J, Osborn M, Williams M, Harper P S, Upadhyaya M
Abstract excerpt
In facioscapulohumeral muscular dystrophy (FSHD), the wide range of clinical severity observed both within and between families has obscured past attempts to identify any phenotypic differences between families from which phenotype-genotype correlation could proposed, although it is noted that age at onset is youngest and severity greatest in isolated cases. From 14/16 large 4q35-linked FSHD families, and 25/34...
Topics
- Adolescent
- Adult
- Age of Onset
- Aged
- Alleles
- Child
- Child, Preschool
- Chromosomes, Human, Pair 4
- Female
- Genetic Variation
- Genotype