Asymptomatic carriers and gender differences in facioscapulohumeral muscular dystrophy (FSHD)

@article{Tonini2004AsymptomaticCA,
  title={Asymptomatic carriers and gender differences in facioscapulohumeral muscular dystrophy (FSHD)},
  author={M. M. O Tonini and Maria Rita Passos-Bueno and A. Cerqueira and Sergio R. Matioli and Mayana Zatz},
  journal={Neuromuscular Disorders},
  year={2004},
  volume={14},
  pages={33-38}
}
Facioscapulohumeral muscular dystrophy is an autosomal dominant muscle disorder, mapped to 4q35. It is characterized by remarkable inter- and intrafamilial clinical variability ranging from severe phenotype to asymptomatic carriers. The aim of the present study was to assess the size of the Eco RI fragment in a large sample of asymptomatic or minimally affected carriers as well as symptomatic patients, comparing both sexes, in order to verify if asymptomatic carriers are randomly distributed or… CONTINUE READING

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