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Expanding the phenotype of GMPPB mutations

Macarena Cabrera-Serrano1, Roula Ghaoui2, Gianina Ravenscroft3

  • 11 Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, WA, Australia 2 Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain Macarena.cabrera@uwa.edu.au.

Brain : a Journal of Neurology
|February 15, 2015
PubMed
Summary

Mutations in the GMPPB gene cause dystroglycanopathies, a group of muscle diseases. This study identifies new disease presentations, including adult-onset limb-girdle muscular dystrophy and rhabdomyolysis, expanding the known spectrum of GMPPB-related disorders.

Keywords:
GMPPBalpha-dystroglycandystroglycanopathieslimb-girdle muscular dystrophyrhabdomyolysis

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