Article
Phenotypic-genotypic correlation will assist genetic counseling in 4q35-facioscapulohumeral muscular dystrophy.
Muscle & nerve. Supplement - 1 Jan 1995
Lunt P W, Jardine P E, Koch M, Maynard J, Osborn M, Williams M, Harper P S, Upadhyaya M
Abstract excerpt
The wide range of severity in facioscapulohumeral muscular dystrophy (FSHD) complicates genetic advice, although onset age is youngest and severity is greatest in isolated cases. From 14 of 16 large FSHD families which are 4q35 linked, and from 25 of 34 isolated cases exhibiting a de novo D4F104S1 DNA fragment, we find a correlation between proband age at onset and FSHD-associated D4F104S1 fragment size (r =...
Topics
- Adolescent
- Adult
- Age of Onset
- Child
- Chromosomes, Human, Pair 4
- Face
- Female
- Genetic Counseling
- Genetic Linkage
- Genotype
- Humans
- Humerus