Bethlem myopathy: An autosomal dominant myopathy with flexion contractures, keloids, and follicular hyperkeratosis

@inproceedings{Saroja2013BethlemMA,
  title={Bethlem myopathy: An autosomal dominant myopathy with flexion contractures, keloids, and follicular hyperkeratosis},
  author={Aralikatte Onkarappa Saroja and Karkal Ravishankar Naik and Atcharayam Nalini and Narayanappa Gayathri},
  booktitle={Annals of Indian Academy of Neurology},
  year={2013}
}
Bethlem myopathy and Ullrich congenital muscular dystrophy form a spectrum of collagenopathies caused by genetic mutations encoding for any of the three subunits of collagen VI. Bethlem phenotype is relatively benign and is characterized by proximal dominant myopathy, keloids, contractures, distal hyperextensibility, and follicular hyperkeratosis. Three patients from a single family were diagnosed to have Bethlem myopathy based on European Neuromuscular Centre Bethlem Consortium criteria… CONTINUE READING