@bullet @bullet @bullet 43rd Annual Diagnostic Slide Session, 2002 References and Diagnoses

نویسندگان

  • Rajeswari Chandran
  • Roberta J. Seidman
چکیده

Comment: This patient had been treated at one point in her course with intravenous immunoglobulin (IVIG), with no effect. Immunocytochemical studies for sarcoglycans, dystrophin, and merosin were all normal. However, there was complete absence of dysferlin, which is also expressed in the sarcolemma at a point different from dystrophin. It was noted that there can be secondary loss of dysferlin from the muscle membranes, and the diagnosis needs to be confirmed by genetic analysis. The disorder is autosomal recessive, with the gene located at 2p13.

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تاریخ انتشار 2009