Simao Cruz and colleagues report the clinical findings and the results of MRI, muscle biopsy, collagen VI expression in cultured skin fibroblasts and genetic tests of a series of patients with Bethlem myopathy. Their analysis of the genetic studies suggests that missense mutations can be associated to a milder clinical presentation.
Cruz, Simao et al. Journal of Neuromuscular Diseases.
"Alamut is the best tool I have used for the annotation of DNA variants. It has a great user interface, combines data from multiple sources and allows for ease of variant interpretation by clinical geneticists."
JORDAN LERNER-ELLIS, Ph.D.
Mt. Sinai Hospital, Toronto