Volume 11, Issue S1 pp. S298-S300
Mutation in Brief
Free Access

A small in-frame deletion within the protease domain of muscle-specific calpain, p94 causes early-onset limb-girdle muscular dystrophy 2A

Karsten Häffner

Karsten Häffner

Abteilung Neuropädiatrie, Rudolf Virchow Klinikum, Humboldt-Universität, Berlin, Germany

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Astrid Speer

Astrid Speer

Fachbereich Chemie und Biotechnologie, Technische Fachhochschule Berlin, Berlin, Germany

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Christoph Hübner

Christoph Hübner

Abteilung Neuropädiatrie, Rudolf Virchow Klinikum, Humboldt-Universität, Berlin, Germany

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Thomas Voit

Thomas Voit

Kinderklinik, Universität Essen, Germany

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Konrad Oexle

Corresponding Author

Konrad Oexle

Abteilung Neuropädiatrie, Rudolf Virchow Klinikum, Humboldt-Universität, Berlin, Germany

Abteilung Neuropädiatrie, Kinderklinik, Humboldt-Universität, Augustenburger Plate 1, 13353 Berlin, Germany; Fax: +49-30-45066920Search for more papers by this author
First published: 28 April 2011
Citations: 11
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