Die kongenitale muskeldystrophie

@article{Vassella2004DieKM,
  title={Die kongenitale muskeldystrophie},
  author={Franco Vassella and Marco Mumenthaler and Edoardo Rossi and Hans Moser and Ulrich Wiesmann},
  journal={Deutsche Zeitschrift f{\"u}r Nervenheilkunde},
  year={2004},
  volume={190},
  pages={349-374}
}
Eight cases of congenital muscular dystrophy are described in detail and compared with 27 cases heretofore reported. Congenital muscular dystrophy is defined as a primary myopathy already manifest at birth with the same histological features as seen in progressive muscular dystrophy. During infancy, the clinical picture either of “Arthrogryposis multiplex congenita” or of “Amyotonia congenita” can be observed. Evidence is provided showing that the disease is transmitted as an autosomal… CONTINUE READING