Early onset, autosomal recessive muscular dystrophy with Emery-Dreifuss phenotype and normal emerin expression.

@article{Taylor1998EarlyOA,
  title={Early onset, autosomal recessive muscular dystrophy with Emery-Dreifuss phenotype and normal emerin expression.},
  author={Jonathan D. Taylor and Caroline A. Sewry and Victor Dubowitz and Francesco Muntoni},
  journal={Neurology},
  year={1998},
  volume={51 4},
  pages={1116-20}
}
OBJECTIVE To describe the clinical and histopathologic picture of a childhood-onset, severe variant of scapuloperoneal MD with rigidity of the spine. BACKGROUND Rigidity of the spine is a feature of numerous syndromes, including X-linked Emery-Dreifuss MD, Bethlem myopathy, and the rigid spine syndrome. These are, however, relatively static or very slowly progressive neuromuscular disorders, usually associated with preserved ambulation into adult life. PATIENTS AND METHODS Five unrelated… CONTINUE READING