Novel mosaic mutation in the dystrophin gene causing distal asymmetric muscle weakness of the upper limbs and dilated cardiomyopathy
Joana Ribeiro 1, Olinda Rebelo 1, Ana Fernández-Marmiesse 2 and Luís Negrão 1
Fascicolo 2-2018
Original article
Long term history of a congenital core-rod myopathy with compound heterozygous mutations in the Nebulin gene
Gilbert Wunderlich 1, Anna Brunn 2, Hülya-Sevcan Daimagüler 3,4, Tarik Bozoglu 3,4, Gereon R. Fink 1,5, Helmar C. Lehmann 1, Joachim Weis 6 and Sebahattin Cirak 3,4
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