Familial myopathy with tubular aggregates associated with abnormal pupils.

Shahrizaila, Nortina; Lowe, James; Wills, Adrian · Neurology · 2004

case_series · Level IV

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Abstract

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.

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