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Communications to Congresses / Medicine and Health Sciences

Estudi d'història natural de la distròfia muscular per dèficit de disferlina

Authors: Irene Pedrosa Hernández, Elena Montiel Morillo, Izaskun Belmonte Jimeno, Helena Bascuñana Ambrós, Yolanda Capapé Genzor, Jordi Cuartero Archs, Cinta Lleixà Rodriguez, Eduard Gallardo Vigo, Isabel Illa Sendra, Jordi Díaz Manera

Keywords: Natural history. Muscular dystrophy. Disferin

Keywords ES: Història natural. Distròfia muscular. Disferlina

Abstract: Dysferlinopathies are a group of genetic diseases of recessive inheritance produced by mutations in the DYSF gene. Several phenotypes have been described and the form of limb-girdle muscular dystrophy and distal myopathy are the most frequent. Muscle weakness worsens slowly, if it is not known how this degeneration occurs.

Abstract ES: Les disferlinopaties són un grup de malalties genètiques d’herència recessiva produïdes per mutacions en el gen DYSF. La debilitat muscular empitjora lentament, si bé no es coneix com es produeix aquesta degeneració. Amb aquest estudi volem conèixer quin és el ritme de progressió de la malaltia en un grup de pacients amb dèficit de disferlina i conèixer les proves funcionals útils per a futurs assaigs clínics.

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Manuscript title:Estudi d'història natural de la distròfia muscular per dèficit de disferlina
First name: Irene
Last name: Pedrosa Hernández
Date:2018-11-23 11:54:18
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Manuscript Identifying Number:sbd-2018-000148  


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