39 y/o M with slowly progressive limb girdle weakness since age 4. Family history significant for several male relatives with similar syndrome.
||acid phosphatase histochemistry||
||non-specific esterase histochemistry|
||ATPase histochemistry, pH 4.3||
||Dystrophin immunohistochemistry, C-terminal epitope|
Down for Diagnosis
DX: Consistent with X-linked vacuolated myopathy (aka, X-linked myopathy with excessive autophagy-XMEA).
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
Villanova M, et al., 1995. X-linked vacuolated myopathy: complement membrane
attack complex on surface membrane of injured muscle fibers. Ann. Neurol.
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