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ASSERETO , Stefania

Last name: ASSERETO

First name: Stefania

2018 (v1)

Publication

Metadata-only

Clinical and molecular consequences of exon 78 deletion in DMD gene

Traverso, Monica Assereto, Stefania Baratto, Serena

We present a 13-year-old patient with persistent increase of serum Creatine Kinase (CK) and myalgia after exertion. Skeletal muscle biopsy showed marked reduction of dystrophin expression leading to genetic analysis of DMD gene by MLPA, which detected a single deletion of exon 78. To the best of our knowledge, DMD exon 78 deletion has never...

Uploaded on: April 14, 2023