Diagnostic utility of skin biopsy in dystrophinopathies.

  title={Diagnostic utility of skin biopsy in dystrophinopathies.},
  author={Nadeem Tanveer and Mehar Chand Sharma and Chitra Sarkar and Sheffali Gulati and Veena Kalra and Sumit Pal Singh and Rohit Bhatia},
  journal={Clinical neurology and neurosurgery},
  volume={111 6},
AIMS Muscle biopsy is an important diagnostic modality and screening test for the diagnosis of dystrophinopathies. Sometimes muscle biopsies are needed for the diagnosis when genetic tests are inconclusive and are also useful for immunoblotting assay of the dystrophin protein. However, the procedure is painful, requires anesthesia and sometimes needs to be… CONTINUE READING