CORDIS Project
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MUMDUPSC focuses on identifying genetic mutations and molecular mechanisms in undiagnosed muscular dystrophies by using patient-derived stem cells. The project combines clinical diagnosis with genomics and disease modeling to improve understanding and classification of these genetic disorders, ultimately aiming to enha…
Neuromuscular Diseases (NMDs), affecting both children and adults with a prevalence of 1 in a 1000 people, form a large and heterogeneous group of genetic diseases causing progressive degeneration of skeletal muscles.
Most NMDs result in chronic long-term disability imposing a significant burden on patients, families and public health care.
In many cases, patients die prematurely from respiratory, and in some cases cardiac, muscle impairment.
There are more than 200 NMDs, including over 30 types…
UNIVERSITE D'AIX MARSEILLE
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