People with certain mutations in the gene coding for dysferlin develop muscular dystrophy—a group of muscle wasting diseases that affect thousands around the world. Professor Simone Spuler and ...

More than 30 types of muscular dystrophy have been identified. They all cause problems with movement due to genetic mutations that lead to the inadequate production of proteins that your muscles need.

DMD treatment SAT-3247 was safe and well-tolerated, and showed signs of increasing muscle strength in five adults, Satellos ...

Sarepta Therapeutics, Inc. (NASDAQ:SRPT), the leader in precision genetic medicine for rare diseases, shared the following ...

An abnormality in the DMD gene causes Duchenne muscular dystrophy. The DMD gene produces dystrophin, a protein that maintains the structure of muscle cells. People with DMD have mutations (changes ...

Local intramuscular administration of the antisense oligonucleotide PRO051 in patients with Duchenne's muscular dystrophy with relevant mutations was previously reported to induce the skipping of ...

What Is Duchenne Muscular Dystrophy ... For the small number of DMD patients with a gene mutation that can be treated by skipping exon 45 (a certain section of genetic code), doctors can ...

Figure 3: DNA sequence electrophoregrams representing the two mutations in the telethonin gene associated with LGMD 2G. Figure 5: Analysis of the telethonin protein in muscle samples. We performed ...

A new gene therapy for Duchenne muscular dystrophy (DMD ... could be applied to other genetic diseases that are caused by mutations in large genes. The research was published in the journal ...

Certain genetic mutations in patients with DMD influence the timing of ambulation loss, with exon 44 skipping, exons 3 through 7 deletions, and exon 2 duplications linked to delayed loss.