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Absence of γ-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12
Journal article   Open access   Peer reviewed

Absence of γ-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12

Daniel Jung, France Leturcq, Yoshihide Sunada, Franck Duclos, Fernando M.S Tomé, Carolyn Moomaw, Luciano Merlini, Kemal Azibi, Malika Chaouch, Clive Slaughter, …
FEBS letters, Vol.381(1), pp.15-20
1996
DOI: 10.1016/0014-5793(96)00056-7
PMID: 8641426
url
https://doi.org/10.1016/0014-5793(96)00056-7View
Published (Version of record) Open Access

Abstract

We have partially sequenced rabbit skeletal muscle γ-sarcoglycan an integral component of the dystrophin-glycoprotein complex. Specific antibodies were produced against a γ-sarcoglycan peptide and used to examine the expression of γ-sarcoglycan in skeletal muscle of patients with severe childhood autosomal muscular dystrophy linked to chromosome 13q12 (SCARMD). We show by immunofluorescence and Western blotting that in skeletal muscle from these patients γ-sarcoglycan is completely absent and α- and β-sarcoglycan are greatly reduced in abundance, whereas other components of the DGC are preserved. In addition, we show that in normal muscle α-, β-, and γ-sarcoglycan constitute a tightly associated sarcolemma complex which can not be disrupted by SDS treatment.
γ-Sarcoglycan Dystrophin-associated glycoprotein, 35 kDa Sarcoglycan complex Severe childhood autosomal muscular dystrophy Limb-girdle muscular dystrophy

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