Clinical and molecular Characterization of limb-girdle muscular dystrophy due to LAMA2 mutations

Bruno F. Gavassini, Nicola Carboni, Jørgen E. Nielsen, Else R. Danielsen, Carsten Thomsen, Kirsten Svenstrup, Luca Bello, Maria Antonietta Maioli, Giovanni Marrosu, Anna Filomena Ticca, Mura Marco, Maria Giovanna Marrosu, Gianni Soraru, Corrado Angelini, John Vissing, Elena Pegoraro*

*Corresponding author af dette arbejde

    Publikation: Bidrag til tidsskriftArtikelForskningpeer review


    INTRODUCTION: In this study we describe the clinical and molecular characteristics of limb-girdle muscular dystrophy (LGMD) due to LAMA2 mutations. METHODS: Five patients clinically diagnosed with LGMD and showing brain white matter hyperintensities on MRI were evaluated using laminin α2 genetic and protein testing. RESULTS: The patients had slowly progressive, mild muscular dystrophy with various degrees of CNS involvement. Epilepsy was observed in 2, and subtle symptoms of CNS involvement (mild deficit in executive functions and low IQ scores) were noted in 3 patients. Novel LAMA2 mutations were identified in all patients. The amount of laminin α2 protein in the muscle biopsies ranged from trace to about 50% compared with controls. CONCLUSIONS: This study represents the largest series of LGMD laminin α2-deficient patients and expands the clinical phenotype associated with LAMA2 mutations. The findings suggest that brain MRI could be included in the diagnostic work-up of patients with undiagnosed LGMD.

    Sider (fra-til)703-709
    Antal sider7
    TidsskriftMuscle and Nerve
    Udgave nummer5
    StatusUdgivet - 1 nov. 2011


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