Toggle Main Menu Toggle Search

Open Access padlockePrints

Sarcoglycanopathies: Can muscle immunoanalysis predict the genotype?

Lookup NU author(s): Dr Lars Klinge, Dr Richard Charlton, Dr Rita Barresi, Emerita Professor Katherine Bushby, Professor Volker StraubORCiD


Full text for this publication is not currently held within this repository. Alternative links are provided below where available.


Muscle immunoanalysis of the sarcoglycan complex is an important part of the diagnostic evaluation of muscle biopsies in patients with autosomal recessive limb-girdle muscular dystrophy. Reduced or absent sarcolemmal expression of one or all of the four sarcoglycans (alpha-, beta-, gamma-, delta-sarcoglycan) can be found in patients with limb-girdle muscular dystrophy 2C-F (LGMD2C-F) and also in patients with Duchenne and Becker muscular dystrophy (DMD/BMD). It has previously been suggested that different patterns of sarcoglycan expression could predict the primary genetic defect, and that genetic analysis could be directed by these patterns. In this first UK study we studied 24 genetically characterized patients with sarcoglycan deficient LGMD, in 22 of whom muscle immunoanalysis data were available. Thirteen patients showed alpha-sarcoglycan deficient LGMD2D, 7 patients beta-sarcoglycan deficient LGMD2E, 3 patients gamma-sarcoglycan deficient LGDM2C, and one patient delta-sarcoglycan deficient LGMD2F. Muscle biopsies were analysed in one centre without knowledge of the established genetic diagnosis. Our results demonstrated that residual sarcoglycan expression is highly variable and does not enable an accurate prediction of the genotype. Considering previous reports of sarcoglycanopathy patients with an isolated loss of one sarcoglycan we recommend to use antibodies against all four sarcoglycans for immunoanalysis of skeletal muscle sections. A concomitant reduction of dystrophin and beta-dystroglycan was observed more frequently than previously reported and illustrates the important differential diagnosis of DMD and BMD for sarcoglycan deficient LGMD. (C) 2008 Elsevier B.V. All rights reserved.

Publication metadata

Author(s): Klinge L, Dekomien G, Aboumousa A, Charlton RG, Epplen JT, Barresi R, Bushby KMD, Straub VW

Publication type: Article

Publication status: Published

Journal: Neuromuscular Disorders

Year: 2008

Volume: 18

Issue: 12

Pages: 934-941

ISSN (print): 0960-8966

ISSN (electronic): 1873-2364

Publisher: Elsevier


DOI: 10.1016/j.nmd.2008.08.003


Altmetrics provided by Altmetric


Funder referenceFunder name
KL 1868/1-1Deutsche Forschungsgemeinschaft
MD-NET 01GM0601German Ministry of Education and Research (BMBF, Bonn, Germany)