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NEUROLOGY 2004;63:1111-1113
© 2004 American Academy of Neurology


Brief Communications

Familial myopathy with tubular aggregates associated with abnormal pupils

Nortina Shahrizaila, MRCP, James Lowe, MD FRCPath and Adrian Wills, MD FRCP

From the Department of Neurology (Drs. Shahrizaila and Wills), Queen’s Medical Centre, University Hospital NHS Trust, Nottingham, UK; and Department of Histopathology (Dr. Lowe), Queen’s Medical Centre, Nottingham, UK.

Address correspondence and reprint requests to Dr. Adrian J. Wills, Neurosciences Directorate, Department of Neurology, Queen’s 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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