ISSN:
1432-0533
Keywords:
Key wordsα-Sarcoglycan
;
γ-Sarcoglycan
;
Sarcoglycanopathy
;
Immunohistochemistry
;
Gene
;
mutation
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract We investigated the expression of α-sarcoglycan, β-sarcoglycan, γ-sarcoglycan, and δ-sarcoglycan immunohistochemically in three patients with mutations of the α-sarcoglycan gene and a patient with a mutation of the γ-sarcoglycan gene. Although each of the four sarcoglycans were decreased on the muscle membranes of all the patients, different expression patterns for each were seen among the patients. In patients with mutations of the α-sarcoglycan gene, β-, γ- and δ-sarcoglycans were relatively preserved as compared to greatly reduced α-sarcoglycan. However, the patient with a mutation of the γ-sarcoglycan gene showed marked reduction of γ-sarcoglycan as compared to partially preserved α- and β-sarcoglycans, and well-preserved δ-sarcoglycan. These results suggest that each sarcoglycan component in sarcoglycanopathy does not decrease in the same manner, and that mutations of the sarcoglycan gene can be predicted, at least in part, by means of sensitive immunohistochemistry for each sarcoglycan.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/s004010050882
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