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GUIBAUD , Marine

Last name: GUIBAUD

First name: Marine

March 25, 2019 (v1)

Publication

Metadata-only

Phenotypic and genomic characterization of Becker dystrophy patients with 45 to 55 exons deletion

Gargaun, Elena Yaou, Rabah Ben Guibaud, Marine

Becker muscular dystrophy (BMD) is an X linked disorder with 1/30000 life births incidence and is characterized by a progressive muscular dystrophy with or without cardiomyopathy. We present a population of 49 BMD patients with a DMD gene in-phase deletion of exons 45 to 55 (BMDdel45-55). Interestingly, emerging regulatory actors as lncRNA are...

Uploaded on: March 25, 2023