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Browsing Enfermedades Neuromusculares by Author "Romero, Norma Beatriz"

Browsing Enfermedades Neuromusculares by Author "Romero, Norma Beatriz"

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  • HNRNPDL-related muscular dystrophy: expanding the clinical, morphological and MRI phenotypes 
    Berardo, Andrés; Lornage, Xavière; Johari, Mridul; Evangelista, Teresinha; Cejas, Claudia Patricia; Barroso, Fabio Adrián; Dubrovsky, Alberto; Bui, Mai Thao; Brochier, Guy; Saccoliti, María; Bohm, Johann; Udd, Bjarne; Laporte, Jocelyn; Romero, Norma Beatriz; Taratuto, Ana Lía (Springer, 2019-07-02)
    Autosomal dominant limb girdle muscular dystrophy D3 HNRNPDL-related is a rare dominant myopathy caused by mutations in HNRNPDL. Only three unrelated families have been described worldwide, a Brazilian and a Chinese carrying ...

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