De novo facioscapulohumeral muscular dystrophy defined by DNA probe p13E-11 (D4F104S1).

@article{Jardine1994DeNF,
  title={De novo facioscapulohumeral muscular dystrophy defined by DNA probe p13E-11 (D4F104S1).},
  author={P. Jardine and M. Koch and P. Lunt and J. Maynard and K. D. Bathke and P. Harper and M. Upadhyaya},
  journal={Archives of Disease in Childhood},
  year={1994},
  volume={71},
  pages={221 - 227}
}
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 19/27 (70%) (8/27 (30%) used wheelchairs at a mean age of 17.7 years); high tone… Expand
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