CASE 4

39 y/o M with slowly progressive limb girdle weakness since age 4. Family history significant for several male relatives with similar syndrome.
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H&E
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acid phosphatase histochemistry
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non-specific esterase histochemistry
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ATPase histochemistry, pH 4.3
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Dystrophin immunohistochemistry, C-terminal epitope

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DX: Consistent with X-linked vacuolated myopathy (aka, X-linked myopathy with excessive autophagy-XMEA).

This is the first case diagnosed in an American family and is being included in a linkage analysis study to determine the genetic locus of this disrder (in press, Neurology, 2002)
 

References: 1) Kalimo H, et al. 1988. X-linked myopathy with excessive autophagy: a new hereditary muscle disease. Ann. Neurol. 23:258-265

2) Villanova M, et al., 1995. X-linked vacuolated myopathy: complement membrane attack complex on surface membrane of injured muscle fibers. Ann. Neurol. 37:637-645
 
 
 

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