Article
De novo facioscapulohumeral muscular dystrophy defined by DNA probe p13E-11 (D4F104S1).
Archives of disease in childhood - 1 Sept 1994
Jardine P E, Koch M C, Lunt P W, Maynard J, Bathke K D, Harper P S, Upadhyaya M
Abstract excerpt
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant condition with variable age of onset and severity. Identification of a de novo DNA fragment by probe p13E-11 (D4F104S1) established the diagnosis of new mutation FSHD in 27 of 31 sporadic cases. The clinical data for these cer...
Topics
- Adolescent
- Adult
- Age Factors
- Child
- DNA Probes
- Facial Asymmetry
- Facial Expression
- Facial Paralysis
- Female
- Humans
- Leg
- Male
- Muscular Dystrophies
- Mutation
- Shoulder Joint