Familial myopathy with tubular aggregates associated with abnormal pupils.
نویسندگان
چکیده
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.
منابع مشابه
Tubular aggregate myopathy with abnormal pupils and skeletal deformities.
A patient is described with a novel syndrome characterised by progressive muscular weakness, contractures, pupillary muscle dysfunction, and skeletal deformity. The main myopathological feature was an abundance of tubular aggregates in both type I and type II muscle fibres. Myopathies in which tubular aggregates are the defining feature are rare and either present with progressive muscle weakne...
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ورودعنوان ژورنال:
- Neurology
دوره 63 6 شماره
صفحات -
تاریخ انتشار 2004