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 certain new mutation cases were as follows: 13 boys, 14 girls; mean age of onset 6.8 years; significant leg weakness in...
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