Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy.

doi:10.1136/jnnp-2017-316956

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Article

Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy.

Journal of neurology, neurosurgery, and psychiatry - 1 Jul 2018

Sarkozy Anna, Torelli Silvia, Mein Rachael, Henderson Matt, Phadke Rahul, Feng Lucy, Sewry Caroline, Ala Pierpaolo, Yau Michael, Bertoli Marta, Willis Tracey, Hammans Simon, Manzur Adnan, Sframeli Maria, Norwood Fiona, Rakowicz Wojtek, Radunovic Aleksandar, Vaidya Sujit S, Parton Matt, Walker Mark, Marino Silvia, Offiah Curtis, Farrugia Maria Elena, Mamutse Godwin, Marini-Bettolo Chiara, Wraige Elizabeth, Beeson David, Lochmüller Hanns, Straub Volker, Bushby Kate, Barresi Rita, Muntoni Francesco

Abstract excerpt

BACKGROUND: Defects in glycosylation of alpha-dystroglycan (α-DG) cause autosomal-recessive disorders with wide clinical and genetic heterogeneity, with phenotypes ranging from congenital muscular dystrophies to milder limb girdle muscular dystrophies. Patients show variable reduction of immunoreactivity to antibodies specific for glycoepitopes of α-DG on a muscle biopsy. Recessive mutations in 18 genes,...

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PMID: 29437916
DOI: 10.1136/jnnp-2017-316956

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GMPPB

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Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy.PMID 29437916Read ↗

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