Limb girdle muscular dystrophy with autosomal dominant inheritance.

@article{Marconi1991LimbGM,
  title={Limb girdle muscular dystrophy with autosomal dominant inheritance.},
  author={Giampiero Marconi and Assunta Pizzi and C G Arimondi and Barbara Gabriella Vannelli},
  journal={Acta neurologica Scandinavica},
  year={1991},
  volume={83 4},
  pages={234-8}
}
We describe a patient suffering from limb-girdle muscular dystrophy with autosomal dominant inheritance proved by the presence of other similar cases in both sexes scattered over 4 generations of his family tree. In all patients the symptoms appeared in adult age and pelvi-femoral preceded scapulo-humeral involvement. Clinical expressivity has been variable, but rather benign without any reduction in life expectancy. Myopathic changes with vacuoles were present in muscle on light and electron… CONTINUE READING