Comparison of Dysferlin Expression in Human Skeletal Muscle with That in Monocytes for the Diagnosis of Dysferlin Myopathy

Eduard Gallardo; Noemi de Luna; Jordi Diaz-Manera; Ricardo Rojas-García; Lidia Gonzalez-Quereda; Bàrbara Flix; Antoine de Morrée; Silvère van der Maarel; Isabel Illa

doi:10.1371/journal.pone.0029061

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Peer-reviewed

Research Article

Comparison of Dysferlin Expression in Human Skeletal Muscle with That in Monocytes for the Diagnosis of Dysferlin Myopathy

Eduard Gallardo ,

Contributed equally to this work with: Eduard Gallardo, Noemi de Luna

Affiliation Servei de Neurologia, Laboratori de Malalties Neuromusculars, Hospital de la Santa Creu i Sant Pau i Institut de Recerca de HSCSP, Universitat Autònoma de Barcelona and Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Spain
⨯
Noemi de Luna ,

Contributed equally to this work with: Eduard Gallardo, Noemi de Luna

Affiliation Servei de Neurologia, Laboratori de Malalties Neuromusculars, Hospital de la Santa Creu i Sant Pau i Institut de Recerca de HSCSP, Universitat Autònoma de Barcelona and Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Spain
⨯
Jordi Diaz-Manera,

Affiliation Servei de Neurologia, Laboratori de Malalties Neuromusculars, Hospital de la Santa Creu i Sant Pau i Institut de Recerca de HSCSP, Universitat Autònoma de Barcelona and Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Spain
⨯
Ricardo Rojas-García,

Affiliation Servei de Neurologia, Laboratori de Malalties Neuromusculars, Hospital de la Santa Creu i Sant Pau i Institut de Recerca de HSCSP, Universitat Autònoma de Barcelona and Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Spain
⨯
Lidia Gonzalez-Quereda,

Affiliation Servei de Genètica, Hospital de la Santa Creu i Sant Pau i Institut de Recerca de HSCSP, Universitat Autònoma and Centro de Investigación en Red de Enfermedades Raras (CIBERER), Barcelona, Spain
⨯
Bàrbara Flix,

Affiliation Servei de Neurologia, Laboratori de Malalties Neuromusculars, Hospital de la Santa Creu i Sant Pau i Institut de Recerca de HSCSP, Universitat Autònoma de Barcelona and Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Spain
⨯
Antoine de Morrée,

Affiliation Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
⨯
Silvère van der Maarel,

Affiliation Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
⨯
Isabel Illa

* E-mail: iilla@santpau.cat

Affiliation Servei de Neurologia, Laboratori de Malalties Neuromusculars, Hospital de la Santa Creu i Sant Pau i Institut de Recerca de HSCSP, Universitat Autònoma de Barcelona and Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Spain
⨯

Comparison of Dysferlin Expression in Human Skeletal Muscle with That in Monocytes for the Diagnosis of Dysferlin Myopathy

Eduard Gallardo,
Noemi de Luna,
Jordi Diaz-Manera,
Ricardo Rojas-García,
Lidia Gonzalez-Quereda,
Bàrbara Flix,
Antoine de Morrée,
Silvère van der Maarel,
Isabel Illa

Published: December 16, 2011
https://doi.org/10.1371/journal.pone.0029061

About the Authors

Eduard Gallardo

Contributed equally to this work with: Eduard Gallardo, Noemi de Luna

Affiliation Servei de Neurologia, Laboratori de Malalties Neuromusculars, Hospital de la Santa Creu i Sant Pau i Institut de Recerca de HSCSP, Universitat Autònoma de Barcelona and Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Spain

Noemi de Luna

Contributed equally to this work with: Eduard Gallardo, Noemi de Luna

Jordi Diaz-Manera

Ricardo Rojas-García

Lidia Gonzalez-Quereda

Affiliation Servei de Genètica, Hospital de la Santa Creu i Sant Pau i Institut de Recerca de HSCSP, Universitat Autònoma and Centro de Investigación en Red de Enfermedades Raras (CIBERER), Barcelona, Spain

Bàrbara Flix

Antoine de Morrée

Affiliation Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands

Silvère van der Maarel

Affiliation Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands

Isabel Illa

* E-mail: iilla@santpau.cat

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: EG NdL II. Performed the experiments: NdL LGQ BF JDM RRG AdM. Analyzed the data: EG NdL. Contributed reagents/materials/analysis tools: SvdM. Wrote the paper: EG NdL II.

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Skeletal muscles
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Biopsy
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Muscle proteins
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Monocytes
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Immunoprecipitation
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Mutation
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Sarcolemmas
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Immunohistochemistry techniques
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