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Posts tagged muscle pathology

Posted by

Date
April 10, 2009
12:00 pm

Tagged
,

Category
Cases, Neuropathology

What is the role of “utrophin” immunofluorescent staining in muscle biopsy evaluation?

We received a muscle biopsy recently from a 5-year-old girl who was likely a dystrophin mutation carrier. Her muscle biopsy displayed a patchwork pattern of dystrophin positive and dystrophin negative muscle fibers. Utrophin was upregulated in fibers deficient for dystrophin. So, what is utrophin? It is the autosomal homologue of dystrophin. To quote the Dubowitz [...]

Posted by

Date
April 7, 2009
9:50 am

Tagged
,

Category
Cases, Neuropathology

LGMD2I: Alpha-dystroglycan without the sugar-coating

A muscle biopsy from 16-year-old girl with exercise intolerance and no family history of muscular dystrophy was received by my institution several months ago. Laboratory studies showed that the girl had elevated creatinine kinase and liver enzyme levels. In consultation with Dr. Steven A. Moore at the University of Iowa, it was determined that the [...]

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