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From the Department of Neurology (Drs. Shahrizaila and Wills), Queens Medical Centre, University Hospital NHS Trust, Nottingham, UK; and Department of Histopathology (Dr. Lowe), Queens Medical Centre, Nottingham, UK.
Address correspondence and reprint requests to Dr. Adrian J. Wills, Neurosciences Directorate, Department of Neurology, Queens Medical Centre, Nottingham NG7 2UH, UK; e-mail: adewills61{at}hotmail.com
The authors describe familial tubular aggregate myopathy associated with abnormal pupils. Four family members from two generations had myopathy and pupillary abnormalities. The myopathologic findings consisted of tubular aggregates in many fibers but predominantly type I fibers.
Received October 23, 2003. Accepted in final form May 10, 2004.
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